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Items: 1 to 20 of 508

1.

rs1488013062 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:124994511 (GRCh38)
    10:126683080 (GRCh37)
    Canonical SPDI:
    NC_000010.11:124994510:G:A
    Gene:
    CTBP2 (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.124994511G>A, NC_000010.10:g.126683080G>A, XM_005269567.4:c.738C>T, XM_005269567.3:c.738C>T, XM_005269567.2:c.738C>T, XM_005269567.1:c.738C>T, NM_001329.4:c.738C>T, NM_001329.3:c.738C>T, NM_001329.2:c.738C>T, NM_022802.3:c.2358C>T, NM_022802.2:c.2358C>T, NM_001290214.3:c.738C>T, NM_001290214.2:c.738C>T, NM_001290214.1:c.738C>T, NM_001083914.3:c.738C>T, NM_001083914.2:c.738C>T, NM_001083914.1:c.738C>T, XM_011539355.3:c.738C>T, XM_011539355.2:c.738C>T, XM_011539355.1:c.738C>T, NM_001290215.3:c.738C>T, NM_001290215.2:c.738C>T, NM_001290215.1:c.738C>T, XM_011539358.3:c.663C>T, XM_011539358.2:c.663C>T, XM_011539358.1:c.663C>T, NM_001363508.2:c.942C>T, NM_001363508.1:c.942C>T, NM_001321014.2:c.738C>T, NM_001321014.1:c.738C>T, NM_001321012.2:c.738C>T, NM_001321012.1:c.738C>T, NM_001321013.2:c.738C>T, NM_001321013.1:c.738C>T, XM_024447830.2:c.738C>T, XM_024447830.1:c.738C>T, XM_047424675.1:c.738C>T, XM_047424667.1:c.738C>T, XM_047424672.1:c.738C>T, XM_047424673.1:c.738C>T, XM_047424664.1:c.738C>T, XM_047424676.1:c.738C>T, XM_047424671.1:c.738C>T, XM_047424668.1:c.738C>T, XM_047424674.1:c.738C>T, XM_047424669.1:c.738C>T, XM_047424670.1:c.738C>T, XM_047424677.1:c.738C>T, XM_047424665.1:c.738C>T, XM_047424679.1:c.663C>T, XM_047424666.1:c.738C>T, XM_047424678.1:c.738C>T, XM_047424680.1:c.663C>T

    2.

    rs1487231587 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      10:124994529 (GRCh38)
      10:126683098 (GRCh37)
      Canonical SPDI:
      NC_000010.11:124994528:G:A
      Gene:
      CTBP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_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_000010.11:g.124994529G>A, NC_000010.10:g.126683098G>A, XM_005269567.4:c.720C>T, XM_005269567.3:c.720C>T, XM_005269567.2:c.720C>T, XM_005269567.1:c.720C>T, NM_001329.4:c.720C>T, NM_001329.3:c.720C>T, NM_001329.2:c.720C>T, NM_022802.3:c.2340C>T, NM_022802.2:c.2340C>T, NM_001290214.3:c.720C>T, NM_001290214.2:c.720C>T, NM_001290214.1:c.720C>T, NM_001083914.3:c.720C>T, NM_001083914.2:c.720C>T, NM_001083914.1:c.720C>T, XM_011539355.3:c.720C>T, XM_011539355.2:c.720C>T, XM_011539355.1:c.720C>T, NM_001290215.3:c.720C>T, NM_001290215.2:c.720C>T, NM_001290215.1:c.720C>T, XM_011539358.3:c.645C>T, XM_011539358.2:c.645C>T, XM_011539358.1:c.645C>T, NM_001363508.2:c.924C>T, NM_001363508.1:c.924C>T, NM_001321014.2:c.720C>T, NM_001321014.1:c.720C>T, NM_001321012.2:c.720C>T, NM_001321012.1:c.720C>T, NM_001321013.2:c.720C>T, NM_001321013.1:c.720C>T, XM_024447830.2:c.720C>T, XM_024447830.1:c.720C>T, XM_047424675.1:c.720C>T, XM_047424667.1:c.720C>T, XM_047424672.1:c.720C>T, XM_047424673.1:c.720C>T, XM_047424664.1:c.720C>T, XM_047424676.1:c.720C>T, XM_047424671.1:c.720C>T, XM_047424668.1:c.720C>T, XM_047424674.1:c.720C>T, XM_047424669.1:c.720C>T, XM_047424670.1:c.720C>T, XM_047424677.1:c.720C>T, XM_047424665.1:c.720C>T, XM_047424679.1:c.645C>T, XM_047424666.1:c.720C>T, XM_047424678.1:c.720C>T, XM_047424680.1:c.645C>T

      3.

      rs1476705900 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        10:125003401 (GRCh38)
        10:126691970 (GRCh37)
        Canonical SPDI:
        NC_000010.11:125003400:G:A
        Gene:
        CTBP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000010.11:g.125003401G>A, NC_000010.10:g.126691970G>A, XM_005269567.4:c.150C>T, XM_005269567.3:c.150C>T, XM_005269567.2:c.150C>T, XM_005269567.1:c.150C>T, NM_001329.4:c.150C>T, NM_001329.3:c.150C>T, NM_001329.2:c.150C>T, NM_022802.3:c.1770C>T, NM_022802.2:c.1770C>T, NM_001290214.3:c.150C>T, NM_001290214.2:c.150C>T, NM_001290214.1:c.150C>T, NM_001083914.3:c.150C>T, NM_001083914.2:c.150C>T, NM_001083914.1:c.150C>T, XM_011539355.3:c.150C>T, XM_011539355.2:c.150C>T, XM_011539355.1:c.150C>T, NM_001290215.3:c.150C>T, NM_001290215.2:c.150C>T, NM_001290215.1:c.150C>T, XM_011539358.3:c.75C>T, XM_011539358.2:c.75C>T, XM_011539358.1:c.75C>T, NM_001363508.2:c.354C>T, NM_001363508.1:c.354C>T, NM_001321014.2:c.150C>T, NM_001321014.1:c.150C>T, NM_001321012.2:c.150C>T, NM_001321012.1:c.150C>T, NM_001321013.2:c.150C>T, NM_001321013.1:c.150C>T, XM_024447830.2:c.150C>T, XM_024447830.1:c.150C>T, XM_047424675.1:c.150C>T, XM_047424667.1:c.150C>T, XM_047424672.1:c.150C>T, XM_047424673.1:c.150C>T, XM_047424664.1:c.150C>T, XM_047424676.1:c.150C>T, XM_047424671.1:c.150C>T, XM_047424668.1:c.150C>T, XM_047424674.1:c.150C>T, XM_047424669.1:c.150C>T, XM_047424670.1:c.150C>T, XM_047424677.1:c.150C>T, XM_047424665.1:c.150C>T, XM_047424679.1:c.75C>T, XM_047424666.1:c.150C>T, XM_047424678.1:c.150C>T, XM_047424680.1:c.75C>T

        4.

        rs1473241961 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->AAAAA [Show Flanks]
          Chromosome:
          10:124993246 (GRCh38)
          10:126681816 (GRCh37)
          Canonical SPDI:
          NC_000010.11:124993246::AAAAA
          Gene:
          CTBP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,frameshift_variant
          HGVS:
          NC_000010.11:g.124993246_124993247insAAAAA, NC_000010.10:g.126681815_126681816insAAAAA, XM_005269567.4:c.994_995insTTTTT, XM_005269567.3:c.994_995insTTTTT, XM_005269567.2:c.994_995insTTTTT, XM_005269567.1:c.994_995insTTTTT, NM_001329.4:c.994_995insTTTTT, NM_001329.3:c.994_995insTTTTT, NM_001329.2:c.994_995insTTTTT, NM_022802.3:c.2614_2615insTTTTT, NM_022802.2:c.2614_2615insTTTTT, NM_001290214.3:c.994_995insTTTTT, NM_001290214.2:c.994_995insTTTTT, NM_001290214.1:c.994_995insTTTTT, NM_001083914.3:c.994_995insTTTTT, NM_001083914.2:c.994_995insTTTTT, NM_001083914.1:c.994_995insTTTTT, XM_011539355.3:c.994_995insTTTTT, XM_011539355.2:c.994_995insTTTTT, XM_011539355.1:c.994_995insTTTTT, NM_001290215.3:c.994_995insTTTTT, NM_001290215.2:c.994_995insTTTTT, NM_001290215.1:c.994_995insTTTTT, XM_011539358.3:c.919_920insTTTTT, XM_011539358.2:c.919_920insTTTTT, XM_011539358.1:c.919_920insTTTTT, NM_001363508.2:c.1198_1199insTTTTT, NM_001363508.1:c.1198_1199insTTTTT, NM_001321014.2:c.994_995insTTTTT, NM_001321014.1:c.994_995insTTTTT, NM_001321012.2:c.994_995insTTTTT, NM_001321012.1:c.994_995insTTTTT, NM_001321013.2:c.994_995insTTTTT, NM_001321013.1:c.994_995insTTTTT, XM_024447830.2:c.994_995insTTTTT, XM_024447830.1:c.994_995insTTTTT, XM_047424675.1:c.994_995insTTTTT, XM_047424667.1:c.994_995insTTTTT, XM_047424672.1:c.994_995insTTTTT, XM_047424673.1:c.994_995insTTTTT, XM_047424664.1:c.994_995insTTTTT, XM_047424676.1:c.994_995insTTTTT, XM_047424671.1:c.994_995insTTTTT, XM_047424668.1:c.994_995insTTTTT, XM_047424674.1:c.994_995insTTTTT, XM_047424669.1:c.994_995insTTTTT, XM_047424670.1:c.994_995insTTTTT, XM_047424677.1:c.994_995insTTTTT, XM_047424665.1:c.994_995insTTTTT, XM_047424679.1:c.919_920insTTTTT, XM_047424666.1:c.994_995insTTTTT, XM_047424678.1:c.994_995insTTTTT, XM_047424680.1:c.919_920insTTTTT, XP_005269624.1:p.Glu332fs, NP_001320.1:p.Glu332fs, NP_073713.2:p.Glu872fs, NP_001277143.1:p.Glu332fs, NP_001077383.1:p.Glu332fs, XP_011537657.1:p.Glu332fs, NP_001277144.1:p.Glu332fs, XP_011537660.1:p.Glu307fs, NP_001350437.1:p.Glu400fs, NP_001307943.1:p.Glu332fs, NP_001307941.1:p.Glu332fs, NP_001307942.1:p.Glu332fs, XP_024303598.1:p.Glu332fs, XP_047280631.1:p.Glu332fs, XP_047280623.1:p.Glu332fs, XP_047280628.1:p.Glu332fs, XP_047280629.1:p.Glu332fs, XP_047280620.1:p.Glu332fs, XP_047280632.1:p.Glu332fs, XP_047280627.1:p.Glu332fs, XP_047280624.1:p.Glu332fs, XP_047280630.1:p.Glu332fs, XP_047280625.1:p.Glu332fs, XP_047280626.1:p.Glu332fs, XP_047280633.1:p.Glu332fs, XP_047280621.1:p.Glu332fs, XP_047280635.1:p.Glu307fs, XP_047280622.1:p.Glu332fs, XP_047280634.1:p.Glu332fs, XP_047280636.1:p.Glu307fs

          5.

          rs1472574273 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            10:125003452 (GRCh38)
            10:126692021 (GRCh37)
            Canonical SPDI:
            NC_000010.11:125003451:G:A
            Gene:
            CTBP2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000010.11:g.125003452G>A, NC_000010.10:g.126692021G>A, XM_005269567.4:c.99C>T, XM_005269567.3:c.99C>T, XM_005269567.2:c.99C>T, XM_005269567.1:c.99C>T, NM_001329.4:c.99C>T, NM_001329.3:c.99C>T, NM_001329.2:c.99C>T, NM_022802.3:c.1719C>T, NM_022802.2:c.1719C>T, NM_001290214.3:c.99C>T, NM_001290214.2:c.99C>T, NM_001290214.1:c.99C>T, NM_001083914.3:c.99C>T, NM_001083914.2:c.99C>T, NM_001083914.1:c.99C>T, XM_011539355.3:c.99C>T, XM_011539355.2:c.99C>T, XM_011539355.1:c.99C>T, NM_001290215.3:c.99C>T, NM_001290215.2:c.99C>T, NM_001290215.1:c.99C>T, XM_011539358.3:c.24C>T, XM_011539358.2:c.24C>T, XM_011539358.1:c.24C>T, NM_001363508.2:c.303C>T, NM_001363508.1:c.303C>T, NM_001321014.2:c.99C>T, NM_001321014.1:c.99C>T, NM_001321012.2:c.99C>T, NM_001321012.1:c.99C>T, NM_001321013.2:c.99C>T, NM_001321013.1:c.99C>T, XM_024447830.2:c.99C>T, XM_024447830.1:c.99C>T, XM_047424675.1:c.99C>T, XM_047424667.1:c.99C>T, XM_047424672.1:c.99C>T, XM_047424673.1:c.99C>T, XM_047424664.1:c.99C>T, XM_047424676.1:c.99C>T, XM_047424671.1:c.99C>T, XM_047424668.1:c.99C>T, XM_047424674.1:c.99C>T, XM_047424669.1:c.99C>T, XM_047424670.1:c.99C>T, XM_047424677.1:c.99C>T, XM_047424665.1:c.99C>T, XM_047424679.1:c.24C>T, XM_047424666.1:c.99C>T, XM_047424678.1:c.99C>T, XM_047424680.1:c.24C>T

            6.

            rs1466015600 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              10:125003055 (GRCh38)
              10:126691624 (GRCh37)
              Canonical SPDI:
              NC_000010.11:125003054:G:A
              Gene:
              CTBP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              A=0.001369/4 (KOREAN)
              HGVS:
              NC_000010.11:g.125003055G>A, NC_000010.10:g.126691624G>A, XM_005269567.4:c.263C>T, XM_005269567.3:c.263C>T, XM_005269567.2:c.263C>T, XM_005269567.1:c.263C>T, NM_001329.4:c.263C>T, NM_001329.3:c.263C>T, NM_001329.2:c.263C>T, NM_022802.3:c.1883C>T, NM_022802.2:c.1883C>T, NM_001290214.3:c.263C>T, NM_001290214.2:c.263C>T, NM_001290214.1:c.263C>T, NM_001083914.3:c.263C>T, NM_001083914.2:c.263C>T, NM_001083914.1:c.263C>T, XM_011539355.3:c.263C>T, XM_011539355.2:c.263C>T, XM_011539355.1:c.263C>T, NM_001290215.3:c.263C>T, NM_001290215.2:c.263C>T, NM_001290215.1:c.263C>T, XM_011539358.3:c.188C>T, XM_011539358.2:c.188C>T, XM_011539358.1:c.188C>T, NM_001363508.2:c.467C>T, NM_001363508.1:c.467C>T, NM_001321014.2:c.263C>T, NM_001321014.1:c.263C>T, NM_001321012.2:c.263C>T, NM_001321012.1:c.263C>T, NM_001321013.2:c.263C>T, NM_001321013.1:c.263C>T, XM_024447830.2:c.263C>T, XM_024447830.1:c.263C>T, XM_047424675.1:c.263C>T, XM_047424667.1:c.263C>T, XM_047424672.1:c.263C>T, XM_047424673.1:c.263C>T, XM_047424664.1:c.263C>T, XM_047424676.1:c.263C>T, XM_047424671.1:c.263C>T, XM_047424668.1:c.263C>T, XM_047424674.1:c.263C>T, XM_047424669.1:c.263C>T, XM_047424670.1:c.263C>T, XM_047424677.1:c.263C>T, XM_047424665.1:c.263C>T, XM_047424679.1:c.188C>T, XM_047424666.1:c.263C>T, XM_047424678.1:c.263C>T, XM_047424680.1:c.188C>T, XP_005269624.1:p.Thr88Ile, NP_001320.1:p.Thr88Ile, NP_073713.2:p.Thr628Ile, NP_001277143.1:p.Thr88Ile, NP_001077383.1:p.Thr88Ile, XP_011537657.1:p.Thr88Ile, NP_001277144.1:p.Thr88Ile, XP_011537660.1:p.Thr63Ile, NP_001350437.1:p.Thr156Ile, NP_001307943.1:p.Thr88Ile, NP_001307941.1:p.Thr88Ile, NP_001307942.1:p.Thr88Ile, XP_024303598.1:p.Thr88Ile, XP_047280631.1:p.Thr88Ile, XP_047280623.1:p.Thr88Ile, XP_047280628.1:p.Thr88Ile, XP_047280629.1:p.Thr88Ile, XP_047280620.1:p.Thr88Ile, XP_047280632.1:p.Thr88Ile, XP_047280627.1:p.Thr88Ile, XP_047280624.1:p.Thr88Ile, XP_047280630.1:p.Thr88Ile, XP_047280625.1:p.Thr88Ile, XP_047280626.1:p.Thr88Ile, XP_047280633.1:p.Thr88Ile, XP_047280621.1:p.Thr88Ile, XP_047280635.1:p.Thr63Ile, XP_047280622.1:p.Thr88Ile, XP_047280634.1:p.Thr88Ile, XP_047280636.1:p.Thr63Ile

              7.

              rs1465967910 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:125003374 (GRCh38)
                10:126691943 (GRCh37)
                Canonical SPDI:
                NC_000010.11:125003373:G:A
                Gene:
                CTBP2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                HGVS:
                NC_000010.11:g.125003374G>A, NC_000010.10:g.126691943G>A, XM_005269567.4:c.177C>T, XM_005269567.3:c.177C>T, XM_005269567.2:c.177C>T, XM_005269567.1:c.177C>T, NM_001329.4:c.177C>T, NM_001329.3:c.177C>T, NM_001329.2:c.177C>T, NM_022802.3:c.1797C>T, NM_022802.2:c.1797C>T, NM_001290214.3:c.177C>T, NM_001290214.2:c.177C>T, NM_001290214.1:c.177C>T, NM_001083914.3:c.177C>T, NM_001083914.2:c.177C>T, NM_001083914.1:c.177C>T, XM_011539355.3:c.177C>T, XM_011539355.2:c.177C>T, XM_011539355.1:c.177C>T, NM_001290215.3:c.177C>T, NM_001290215.2:c.177C>T, NM_001290215.1:c.177C>T, XM_011539358.3:c.102C>T, XM_011539358.2:c.102C>T, XM_011539358.1:c.102C>T, NM_001363508.2:c.381C>T, NM_001363508.1:c.381C>T, NM_001321014.2:c.177C>T, NM_001321014.1:c.177C>T, NM_001321012.2:c.177C>T, NM_001321012.1:c.177C>T, NM_001321013.2:c.177C>T, NM_001321013.1:c.177C>T, XM_024447830.2:c.177C>T, XM_024447830.1:c.177C>T, XM_047424675.1:c.177C>T, XM_047424667.1:c.177C>T, XM_047424672.1:c.177C>T, XM_047424673.1:c.177C>T, XM_047424664.1:c.177C>T, XM_047424676.1:c.177C>T, XM_047424671.1:c.177C>T, XM_047424668.1:c.177C>T, XM_047424674.1:c.177C>T, XM_047424669.1:c.177C>T, XM_047424670.1:c.177C>T, XM_047424677.1:c.177C>T, XM_047424665.1:c.177C>T, XM_047424679.1:c.102C>T, XM_047424666.1:c.177C>T, XM_047424678.1:c.177C>T, XM_047424680.1:c.102C>T

                8.

                rs1464528481 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  10:124989619 (GRCh38)
                  10:126678188 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:124989618:C:G
                  Gene:
                  CTBP2 (Varview)
                  Functional Consequence:
                  coding_sequence_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:
                  NC_000010.11:g.124989619C>G, NC_000010.10:g.126678188C>G, XM_005269567.4:c.1237G>C, XM_005269567.3:c.1237G>C, XM_005269567.2:c.1237G>C, XM_005269567.1:c.1237G>C, NM_001329.4:c.1237G>C, NM_001329.3:c.1237G>C, NM_001329.2:c.1237G>C, NM_022802.3:c.2857G>C, NM_022802.2:c.2857G>C, NM_001290214.3:c.1237G>C, NM_001290214.2:c.1237G>C, NM_001290214.1:c.1237G>C, NM_001083914.3:c.1237G>C, NM_001083914.2:c.1237G>C, NM_001083914.1:c.1237G>C, XM_011539355.3:c.1237G>C, XM_011539355.2:c.1237G>C, XM_011539355.1:c.1237G>C, NM_001290215.3:c.1237G>C, NM_001290215.2:c.1237G>C, NM_001290215.1:c.1237G>C, XM_011539358.3:c.1162G>C, XM_011539358.2:c.1162G>C, XM_011539358.1:c.1162G>C, NM_001363508.2:c.1441G>C, NM_001363508.1:c.1441G>C, NM_001321014.2:c.1237G>C, NM_001321014.1:c.1237G>C, NM_001321012.2:c.1237G>C, NM_001321012.1:c.1237G>C, NM_001321013.2:c.1237G>C, NM_001321013.1:c.1237G>C, XM_024447830.2:c.1237G>C, XM_024447830.1:c.1237G>C, XM_047424675.1:c.1237G>C, XM_047424667.1:c.1237G>C, XM_047424672.1:c.1237G>C, XM_047424673.1:c.1237G>C, XM_047424664.1:c.1237G>C, XM_047424676.1:c.1237G>C, XM_047424671.1:c.1237G>C, XM_047424668.1:c.1237G>C, XM_047424674.1:c.1237G>C, XM_047424669.1:c.1237G>C, XM_047424670.1:c.1237G>C, XM_047424677.1:c.1237G>C, XM_047424665.1:c.1237G>C, XM_047424679.1:c.1162G>C, XM_047424666.1:c.1237G>C, XM_047424678.1:c.1237G>C, XM_047424680.1:c.1162G>C, XP_005269624.1:p.Val413Leu, NP_001320.1:p.Val413Leu, NP_073713.2:p.Val953Leu, NP_001277143.1:p.Val413Leu, NP_001077383.1:p.Val413Leu, XP_011537657.1:p.Val413Leu, NP_001277144.1:p.Val413Leu, XP_011537660.1:p.Val388Leu, NP_001350437.1:p.Val481Leu, NP_001307943.1:p.Val413Leu, NP_001307941.1:p.Val413Leu, NP_001307942.1:p.Val413Leu, XP_024303598.1:p.Val413Leu, XP_047280631.1:p.Val413Leu, XP_047280623.1:p.Val413Leu, XP_047280628.1:p.Val413Leu, XP_047280629.1:p.Val413Leu, XP_047280620.1:p.Val413Leu, XP_047280632.1:p.Val413Leu, XP_047280627.1:p.Val413Leu, XP_047280624.1:p.Val413Leu, XP_047280630.1:p.Val413Leu, XP_047280625.1:p.Val413Leu, XP_047280626.1:p.Val413Leu, XP_047280633.1:p.Val413Leu, XP_047280621.1:p.Val413Leu, XP_047280635.1:p.Val388Leu, XP_047280622.1:p.Val413Leu, XP_047280634.1:p.Val413Leu, XP_047280636.1:p.Val388Leu

                  9.

                  rs1463977029 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    10:124998023 (GRCh38)
                    10:126686592 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:124998022:C:A,NC_000010.11:124998022:C:T
                    Gene:
                    CTBP2 (Varview), LOC124902520 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000010.11:g.124998023C>A, NC_000010.11:g.124998023C>T, NC_000010.10:g.126686592C>A, NC_000010.10:g.126686592C>T, XM_005269567.4:c.506G>T, XM_005269567.4:c.506G>A, XM_005269567.3:c.506G>T, XM_005269567.3:c.506G>A, XM_005269567.2:c.506G>T, XM_005269567.2:c.506G>A, XM_005269567.1:c.506G>T, XM_005269567.1:c.506G>A, NM_001329.4:c.506G>T, NM_001329.4:c.506G>A, NM_001329.3:c.506G>T, NM_001329.3:c.506G>A, NM_001329.2:c.506G>T, NM_001329.2:c.506G>A, NM_022802.3:c.2126G>T, NM_022802.3:c.2126G>A, NM_022802.2:c.2126G>T, NM_022802.2:c.2126G>A, NM_001290214.3:c.506G>T, NM_001290214.3:c.506G>A, NM_001290214.2:c.506G>T, NM_001290214.2:c.506G>A, NM_001290214.1:c.506G>T, NM_001290214.1:c.506G>A, NM_001083914.3:c.506G>T, NM_001083914.3:c.506G>A, NM_001083914.2:c.506G>T, NM_001083914.2:c.506G>A, NM_001083914.1:c.506G>T, NM_001083914.1:c.506G>A, XM_011539355.3:c.506G>T, XM_011539355.3:c.506G>A, XM_011539355.2:c.506G>T, XM_011539355.2:c.506G>A, XM_011539355.1:c.506G>T, XM_011539355.1:c.506G>A, NM_001290215.3:c.506G>T, NM_001290215.3:c.506G>A, NM_001290215.2:c.506G>T, NM_001290215.2:c.506G>A, NM_001290215.1:c.506G>T, NM_001290215.1:c.506G>A, XM_011539358.3:c.431G>T, XM_011539358.3:c.431G>A, XM_011539358.2:c.431G>T, XM_011539358.2:c.431G>A, XM_011539358.1:c.431G>T, XM_011539358.1:c.431G>A, NM_001363508.2:c.710G>T, NM_001363508.2:c.710G>A, NM_001363508.1:c.710G>T, NM_001363508.1:c.710G>A, NM_001321014.2:c.506G>T, NM_001321014.2:c.506G>A, NM_001321014.1:c.506G>T, NM_001321014.1:c.506G>A, NM_001321012.2:c.506G>T, NM_001321012.2:c.506G>A, NM_001321012.1:c.506G>T, NM_001321012.1:c.506G>A, NM_001321013.2:c.506G>T, NM_001321013.2:c.506G>A, NM_001321013.1:c.506G>T, NM_001321013.1:c.506G>A, XM_024447830.2:c.506G>T, XM_024447830.2:c.506G>A, XM_024447830.1:c.506G>T, XM_024447830.1:c.506G>A, XM_047424675.1:c.506G>T, XM_047424675.1:c.506G>A, XM_047424667.1:c.506G>T, XM_047424667.1:c.506G>A, XM_047424672.1:c.506G>T, XM_047424672.1:c.506G>A, XM_047424673.1:c.506G>T, XM_047424673.1:c.506G>A, XM_047424664.1:c.506G>T, XM_047424664.1:c.506G>A, XM_047424676.1:c.506G>T, XM_047424676.1:c.506G>A, XM_047424671.1:c.506G>T, XM_047424671.1:c.506G>A, XM_047424668.1:c.506G>T, XM_047424668.1:c.506G>A, XM_047424674.1:c.506G>T, XM_047424674.1:c.506G>A, XM_047424669.1:c.506G>T, XM_047424669.1:c.506G>A, XM_047424670.1:c.506G>T, XM_047424670.1:c.506G>A, XM_047424677.1:c.506G>T, XM_047424677.1:c.506G>A, XM_047424665.1:c.506G>T, XM_047424665.1:c.506G>A, XM_047424679.1:c.431G>T, XM_047424679.1:c.431G>A, XM_047424666.1:c.506G>T, XM_047424666.1:c.506G>A, XM_047424678.1:c.506G>T, XM_047424678.1:c.506G>A, XM_047424680.1:c.431G>T, XM_047424680.1:c.431G>A, XP_005269624.1:p.Arg169Leu, XP_005269624.1:p.Arg169His, NP_001320.1:p.Arg169Leu, NP_001320.1:p.Arg169His, NP_073713.2:p.Arg709Leu, NP_073713.2:p.Arg709His, NP_001277143.1:p.Arg169Leu, NP_001277143.1:p.Arg169His, NP_001077383.1:p.Arg169Leu, NP_001077383.1:p.Arg169His, XP_011537657.1:p.Arg169Leu, XP_011537657.1:p.Arg169His, NP_001277144.1:p.Arg169Leu, NP_001277144.1:p.Arg169His, XP_011537660.1:p.Arg144Leu, XP_011537660.1:p.Arg144His, NP_001350437.1:p.Arg237Leu, NP_001350437.1:p.Arg237His, NP_001307943.1:p.Arg169Leu, NP_001307943.1:p.Arg169His, NP_001307941.1:p.Arg169Leu, NP_001307941.1:p.Arg169His, NP_001307942.1:p.Arg169Leu, NP_001307942.1:p.Arg169His, XP_024303598.1:p.Arg169Leu, XP_024303598.1:p.Arg169His, XP_047280631.1:p.Arg169Leu, XP_047280631.1:p.Arg169His, XP_047280623.1:p.Arg169Leu, XP_047280623.1:p.Arg169His, XP_047280628.1:p.Arg169Leu, XP_047280628.1:p.Arg169His, XP_047280629.1:p.Arg169Leu, XP_047280629.1:p.Arg169His, XP_047280620.1:p.Arg169Leu, XP_047280620.1:p.Arg169His, XP_047280632.1:p.Arg169Leu, XP_047280632.1:p.Arg169His, XP_047280627.1:p.Arg169Leu, XP_047280627.1:p.Arg169His, XP_047280624.1:p.Arg169Leu, XP_047280624.1:p.Arg169His, XP_047280630.1:p.Arg169Leu, XP_047280630.1:p.Arg169His, XP_047280625.1:p.Arg169Leu, XP_047280625.1:p.Arg169His, XP_047280626.1:p.Arg169Leu, XP_047280626.1:p.Arg169His, XP_047280633.1:p.Arg169Leu, XP_047280633.1:p.Arg169His, XP_047280621.1:p.Arg169Leu, XP_047280621.1:p.Arg169His, XP_047280635.1:p.Arg144Leu, XP_047280635.1:p.Arg144His, XP_047280622.1:p.Arg169Leu, XP_047280622.1:p.Arg169His, XP_047280634.1:p.Arg169Leu, XP_047280634.1:p.Arg169His, XP_047280636.1:p.Arg144Leu, XP_047280636.1:p.Arg144His

                    10.

                    rs1463969658 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      10:124993921 (GRCh38)
                      10:126682490 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:124993920:G:A,NC_000010.11:124993920:G:C
                      Gene:
                      CTBP2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00006/2 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000010.11:g.124993921G>A, NC_000010.11:g.124993921G>C, NC_000010.10:g.126682490G>A, NC_000010.10:g.126682490G>C, XM_005269567.4:c.845C>T, XM_005269567.4:c.845C>G, XM_005269567.3:c.845C>T, XM_005269567.3:c.845C>G, XM_005269567.2:c.845C>T, XM_005269567.2:c.845C>G, XM_005269567.1:c.845C>T, XM_005269567.1:c.845C>G, NM_001329.4:c.845C>T, NM_001329.4:c.845C>G, NM_001329.3:c.845C>T, NM_001329.3:c.845C>G, NM_001329.2:c.845C>T, NM_001329.2:c.845C>G, NM_022802.3:c.2465C>T, NM_022802.3:c.2465C>G, NM_022802.2:c.2465C>T, NM_022802.2:c.2465C>G, NM_001290214.3:c.845C>T, NM_001290214.3:c.845C>G, NM_001290214.2:c.845C>T, NM_001290214.2:c.845C>G, NM_001290214.1:c.845C>T, NM_001290214.1:c.845C>G, NM_001083914.3:c.845C>T, NM_001083914.3:c.845C>G, NM_001083914.2:c.845C>T, NM_001083914.2:c.845C>G, NM_001083914.1:c.845C>T, NM_001083914.1:c.845C>G, XM_011539355.3:c.845C>T, XM_011539355.3:c.845C>G, XM_011539355.2:c.845C>T, XM_011539355.2:c.845C>G, XM_011539355.1:c.845C>T, XM_011539355.1:c.845C>G, NM_001290215.3:c.845C>T, NM_001290215.3:c.845C>G, NM_001290215.2:c.845C>T, NM_001290215.2:c.845C>G, NM_001290215.1:c.845C>T, NM_001290215.1:c.845C>G, XM_011539358.3:c.770C>T, XM_011539358.3:c.770C>G, XM_011539358.2:c.770C>T, XM_011539358.2:c.770C>G, XM_011539358.1:c.770C>T, XM_011539358.1:c.770C>G, NM_001363508.2:c.1049C>T, NM_001363508.2:c.1049C>G, NM_001363508.1:c.1049C>T, NM_001363508.1:c.1049C>G, NM_001321014.2:c.845C>T, NM_001321014.2:c.845C>G, NM_001321014.1:c.845C>T, NM_001321014.1:c.845C>G, NM_001321012.2:c.845C>T, NM_001321012.2:c.845C>G, NM_001321012.1:c.845C>T, NM_001321012.1:c.845C>G, NM_001321013.2:c.845C>T, NM_001321013.2:c.845C>G, NM_001321013.1:c.845C>T, NM_001321013.1:c.845C>G, XM_024447830.2:c.845C>T, XM_024447830.2:c.845C>G, XM_024447830.1:c.845C>T, XM_024447830.1:c.845C>G, XM_047424675.1:c.845C>T, XM_047424675.1:c.845C>G, XM_047424667.1:c.845C>T, XM_047424667.1:c.845C>G, XM_047424672.1:c.845C>T, XM_047424672.1:c.845C>G, XM_047424673.1:c.845C>T, XM_047424673.1:c.845C>G, XM_047424664.1:c.845C>T, XM_047424664.1:c.845C>G, XM_047424676.1:c.845C>T, XM_047424676.1:c.845C>G, XM_047424671.1:c.845C>T, XM_047424671.1:c.845C>G, XM_047424668.1:c.845C>T, XM_047424668.1:c.845C>G, XM_047424674.1:c.845C>T, XM_047424674.1:c.845C>G, XM_047424669.1:c.845C>T, XM_047424669.1:c.845C>G, XM_047424670.1:c.845C>T, XM_047424670.1:c.845C>G, XM_047424677.1:c.845C>T, XM_047424677.1:c.845C>G, XM_047424665.1:c.845C>T, XM_047424665.1:c.845C>G, XM_047424679.1:c.770C>T, XM_047424679.1:c.770C>G, XM_047424666.1:c.845C>T, XM_047424666.1:c.845C>G, XM_047424678.1:c.845C>T, XM_047424678.1:c.845C>G, XM_047424680.1:c.770C>T, XM_047424680.1:c.770C>G, XP_005269624.1:p.Ala282Val, XP_005269624.1:p.Ala282Gly, NP_001320.1:p.Ala282Val, NP_001320.1:p.Ala282Gly, NP_073713.2:p.Ala822Val, NP_073713.2:p.Ala822Gly, NP_001277143.1:p.Ala282Val, NP_001277143.1:p.Ala282Gly, NP_001077383.1:p.Ala282Val, NP_001077383.1:p.Ala282Gly, XP_011537657.1:p.Ala282Val, XP_011537657.1:p.Ala282Gly, NP_001277144.1:p.Ala282Val, NP_001277144.1:p.Ala282Gly, XP_011537660.1:p.Ala257Val, XP_011537660.1:p.Ala257Gly, NP_001350437.1:p.Ala350Val, NP_001350437.1:p.Ala350Gly, NP_001307943.1:p.Ala282Val, NP_001307943.1:p.Ala282Gly, NP_001307941.1:p.Ala282Val, NP_001307941.1:p.Ala282Gly, NP_001307942.1:p.Ala282Val, NP_001307942.1:p.Ala282Gly, XP_024303598.1:p.Ala282Val, XP_024303598.1:p.Ala282Gly, XP_047280631.1:p.Ala282Val, XP_047280631.1:p.Ala282Gly, XP_047280623.1:p.Ala282Val, XP_047280623.1:p.Ala282Gly, XP_047280628.1:p.Ala282Val, XP_047280628.1:p.Ala282Gly, XP_047280629.1:p.Ala282Val, XP_047280629.1:p.Ala282Gly, XP_047280620.1:p.Ala282Val, XP_047280620.1:p.Ala282Gly, XP_047280632.1:p.Ala282Val, XP_047280632.1:p.Ala282Gly, XP_047280627.1:p.Ala282Val, XP_047280627.1:p.Ala282Gly, XP_047280624.1:p.Ala282Val, XP_047280624.1:p.Ala282Gly, XP_047280630.1:p.Ala282Val, XP_047280630.1:p.Ala282Gly, XP_047280625.1:p.Ala282Val, XP_047280625.1:p.Ala282Gly, XP_047280626.1:p.Ala282Val, XP_047280626.1:p.Ala282Gly, XP_047280633.1:p.Ala282Val, XP_047280633.1:p.Ala282Gly, XP_047280621.1:p.Ala282Val, XP_047280621.1:p.Ala282Gly, XP_047280635.1:p.Ala257Val, XP_047280635.1:p.Ala257Gly, XP_047280622.1:p.Ala282Val, XP_047280622.1:p.Ala282Gly, XP_047280634.1:p.Ala282Val, XP_047280634.1:p.Ala282Gly, XP_047280636.1:p.Ala257Val, XP_047280636.1:p.Ala257Gly

                      11.

                      rs1458610119 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        10:124993953 (GRCh38)
                        10:126682522 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:124993952:G:T
                        Gene:
                        CTBP2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.124993953G>T, NC_000010.10:g.126682522G>T, XM_005269567.4:c.813C>A, XM_005269567.3:c.813C>A, XM_005269567.2:c.813C>A, XM_005269567.1:c.813C>A, NM_001329.4:c.813C>A, NM_001329.3:c.813C>A, NM_001329.2:c.813C>A, NM_022802.3:c.2433C>A, NM_022802.2:c.2433C>A, NM_001290214.3:c.813C>A, NM_001290214.2:c.813C>A, NM_001290214.1:c.813C>A, NM_001083914.3:c.813C>A, NM_001083914.2:c.813C>A, NM_001083914.1:c.813C>A, XM_011539355.3:c.813C>A, XM_011539355.2:c.813C>A, XM_011539355.1:c.813C>A, NM_001290215.3:c.813C>A, NM_001290215.2:c.813C>A, NM_001290215.1:c.813C>A, XM_011539358.3:c.738C>A, XM_011539358.2:c.738C>A, XM_011539358.1:c.738C>A, NM_001363508.2:c.1017C>A, NM_001363508.1:c.1017C>A, NM_001321014.2:c.813C>A, NM_001321014.1:c.813C>A, NM_001321012.2:c.813C>A, NM_001321012.1:c.813C>A, NM_001321013.2:c.813C>A, NM_001321013.1:c.813C>A, XM_024447830.2:c.813C>A, XM_024447830.1:c.813C>A, XM_047424675.1:c.813C>A, XM_047424667.1:c.813C>A, XM_047424672.1:c.813C>A, XM_047424673.1:c.813C>A, XM_047424664.1:c.813C>A, XM_047424676.1:c.813C>A, XM_047424671.1:c.813C>A, XM_047424668.1:c.813C>A, XM_047424674.1:c.813C>A, XM_047424669.1:c.813C>A, XM_047424670.1:c.813C>A, XM_047424677.1:c.813C>A, XM_047424665.1:c.813C>A, XM_047424679.1:c.738C>A, XM_047424666.1:c.813C>A, XM_047424678.1:c.813C>A, XM_047424680.1:c.738C>A

                        12.

                        rs1458596713 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:124989653 (GRCh38)
                          10:126678222 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:124989652:T:C
                          Gene:
                          CTBP2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.0705/206 (KOREAN)
                          HGVS:
                          NC_000010.11:g.124989653T>C, NC_000010.10:g.126678222T>C, XM_005269567.4:c.1203A>G, XM_005269567.3:c.1203A>G, XM_005269567.2:c.1203A>G, XM_005269567.1:c.1203A>G, NM_001329.4:c.1203A>G, NM_001329.3:c.1203A>G, NM_001329.2:c.1203A>G, NM_022802.3:c.2823A>G, NM_022802.2:c.2823A>G, NM_001290214.3:c.1203A>G, NM_001290214.2:c.1203A>G, NM_001290214.1:c.1203A>G, NM_001083914.3:c.1203A>G, NM_001083914.2:c.1203A>G, NM_001083914.1:c.1203A>G, XM_011539355.3:c.1203A>G, XM_011539355.2:c.1203A>G, XM_011539355.1:c.1203A>G, NM_001290215.3:c.1203A>G, NM_001290215.2:c.1203A>G, NM_001290215.1:c.1203A>G, XM_011539358.3:c.1128A>G, XM_011539358.2:c.1128A>G, XM_011539358.1:c.1128A>G, NM_001363508.2:c.1407A>G, NM_001363508.1:c.1407A>G, NM_001321014.2:c.1203A>G, NM_001321014.1:c.1203A>G, NM_001321012.2:c.1203A>G, NM_001321012.1:c.1203A>G, NM_001321013.2:c.1203A>G, NM_001321013.1:c.1203A>G, XM_024447830.2:c.1203A>G, XM_024447830.1:c.1203A>G, XM_047424675.1:c.1203A>G, XM_047424667.1:c.1203A>G, XM_047424672.1:c.1203A>G, XM_047424673.1:c.1203A>G, XM_047424664.1:c.1203A>G, XM_047424676.1:c.1203A>G, XM_047424671.1:c.1203A>G, XM_047424668.1:c.1203A>G, XM_047424674.1:c.1203A>G, XM_047424669.1:c.1203A>G, XM_047424670.1:c.1203A>G, XM_047424677.1:c.1203A>G, XM_047424665.1:c.1203A>G, XM_047424679.1:c.1128A>G, XM_047424666.1:c.1203A>G, XM_047424678.1:c.1203A>G, XM_047424680.1:c.1128A>G

                          13.

                          rs1458319943 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            10:124989548 (GRCh38)
                            10:126678117 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:124989547:C:T
                            Gene:
                            CTBP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_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_000010.11:g.124989548C>T, NC_000010.10:g.126678117C>T, XM_005269567.4:c.1308G>A, XM_005269567.3:c.1308G>A, XM_005269567.2:c.1308G>A, XM_005269567.1:c.1308G>A, NM_001329.4:c.1308G>A, NM_001329.3:c.1308G>A, NM_001329.2:c.1308G>A, NM_022802.3:c.2928G>A, NM_022802.2:c.2928G>A, NM_001290214.3:c.1308G>A, NM_001290214.2:c.1308G>A, NM_001290214.1:c.1308G>A, NM_001083914.3:c.1308G>A, NM_001083914.2:c.1308G>A, NM_001083914.1:c.1308G>A, XM_011539355.3:c.1308G>A, XM_011539355.2:c.1308G>A, XM_011539355.1:c.1308G>A, NM_001290215.3:c.1308G>A, NM_001290215.2:c.1308G>A, NM_001290215.1:c.1308G>A, XM_011539358.3:c.1233G>A, XM_011539358.2:c.1233G>A, XM_011539358.1:c.1233G>A, NM_001363508.2:c.1512G>A, NM_001363508.1:c.1512G>A, NM_001321014.2:c.1308G>A, NM_001321014.1:c.1308G>A, NM_001321012.2:c.1308G>A, NM_001321012.1:c.1308G>A, NM_001321013.2:c.1308G>A, NM_001321013.1:c.1308G>A, XM_024447830.2:c.1308G>A, XM_024447830.1:c.1308G>A, XM_047424675.1:c.1308G>A, XM_047424667.1:c.1308G>A, XM_047424672.1:c.1308G>A, XM_047424673.1:c.1308G>A, XM_047424664.1:c.1308G>A, XM_047424676.1:c.1308G>A, XM_047424671.1:c.1308G>A, XM_047424668.1:c.1308G>A, XM_047424674.1:c.1308G>A, XM_047424669.1:c.1308G>A, XM_047424670.1:c.1308G>A, XM_047424677.1:c.1308G>A, XM_047424665.1:c.1308G>A, XM_047424679.1:c.1233G>A, XM_047424666.1:c.1308G>A, XM_047424678.1:c.1308G>A, XM_047424680.1:c.1233G>A

                            14.

                            rs1458168027 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:124998061 (GRCh38)
                              10:126686630 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:124998060:C:T
                              Gene:
                              CTBP2 (Varview), LOC124902520 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,upstream_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_000010.11:g.124998061C>T, NC_000010.10:g.126686630C>T, XM_005269567.4:c.468G>A, XM_005269567.3:c.468G>A, XM_005269567.2:c.468G>A, XM_005269567.1:c.468G>A, NM_001329.4:c.468G>A, NM_001329.3:c.468G>A, NM_001329.2:c.468G>A, NM_022802.3:c.2088G>A, NM_022802.2:c.2088G>A, NM_001290214.3:c.468G>A, NM_001290214.2:c.468G>A, NM_001290214.1:c.468G>A, NM_001083914.3:c.468G>A, NM_001083914.2:c.468G>A, NM_001083914.1:c.468G>A, XM_011539355.3:c.468G>A, XM_011539355.2:c.468G>A, XM_011539355.1:c.468G>A, NM_001290215.3:c.468G>A, NM_001290215.2:c.468G>A, NM_001290215.1:c.468G>A, XM_011539358.3:c.393G>A, XM_011539358.2:c.393G>A, XM_011539358.1:c.393G>A, NM_001363508.2:c.672G>A, NM_001363508.1:c.672G>A, NM_001321014.2:c.468G>A, NM_001321014.1:c.468G>A, NM_001321012.2:c.468G>A, NM_001321012.1:c.468G>A, NM_001321013.2:c.468G>A, NM_001321013.1:c.468G>A, XM_024447830.2:c.468G>A, XM_024447830.1:c.468G>A, XM_047424675.1:c.468G>A, XM_047424667.1:c.468G>A, XM_047424672.1:c.468G>A, XM_047424673.1:c.468G>A, XM_047424664.1:c.468G>A, XM_047424676.1:c.468G>A, XM_047424671.1:c.468G>A, XM_047424668.1:c.468G>A, XM_047424674.1:c.468G>A, XM_047424669.1:c.468G>A, XM_047424670.1:c.468G>A, XM_047424677.1:c.468G>A, XM_047424665.1:c.468G>A, XM_047424679.1:c.393G>A, XM_047424666.1:c.468G>A, XM_047424678.1:c.468G>A, XM_047424680.1:c.393G>A

                              15.

                              rs1457718038 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                10:124998105 (GRCh38)
                                10:126686674 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:124998104:T:C
                                Gene:
                                CTBP2 (Varview), LOC124902520 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000047/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000106/2 (TOMMO)
                                HGVS:
                                NC_000010.11:g.124998105T>C, NC_000010.10:g.126686674T>C, XM_005269567.4:c.424A>G, XM_005269567.3:c.424A>G, XM_005269567.2:c.424A>G, XM_005269567.1:c.424A>G, NM_001329.4:c.424A>G, NM_001329.3:c.424A>G, NM_001329.2:c.424A>G, NM_022802.3:c.2044A>G, NM_022802.2:c.2044A>G, NM_001290214.3:c.424A>G, NM_001290214.2:c.424A>G, NM_001290214.1:c.424A>G, NM_001083914.3:c.424A>G, NM_001083914.2:c.424A>G, NM_001083914.1:c.424A>G, XM_011539355.3:c.424A>G, XM_011539355.2:c.424A>G, XM_011539355.1:c.424A>G, NM_001290215.3:c.424A>G, NM_001290215.2:c.424A>G, NM_001290215.1:c.424A>G, XM_011539358.3:c.349A>G, XM_011539358.2:c.349A>G, XM_011539358.1:c.349A>G, NM_001363508.2:c.628A>G, NM_001363508.1:c.628A>G, NM_001321014.2:c.424A>G, NM_001321014.1:c.424A>G, NM_001321012.2:c.424A>G, NM_001321012.1:c.424A>G, NM_001321013.2:c.424A>G, NM_001321013.1:c.424A>G, XM_024447830.2:c.424A>G, XM_024447830.1:c.424A>G, XM_047424675.1:c.424A>G, XM_047424667.1:c.424A>G, XM_047424672.1:c.424A>G, XM_047424673.1:c.424A>G, XM_047424664.1:c.424A>G, XM_047424676.1:c.424A>G, XM_047424671.1:c.424A>G, XM_047424668.1:c.424A>G, XM_047424674.1:c.424A>G, XM_047424669.1:c.424A>G, XM_047424670.1:c.424A>G, XM_047424677.1:c.424A>G, XM_047424665.1:c.424A>G, XM_047424679.1:c.349A>G, XM_047424666.1:c.424A>G, XM_047424678.1:c.424A>G, XM_047424680.1:c.349A>G, XP_005269624.1:p.Ile142Val, NP_001320.1:p.Ile142Val, NP_073713.2:p.Ile682Val, NP_001277143.1:p.Ile142Val, NP_001077383.1:p.Ile142Val, XP_011537657.1:p.Ile142Val, NP_001277144.1:p.Ile142Val, XP_011537660.1:p.Ile117Val, NP_001350437.1:p.Ile210Val, NP_001307943.1:p.Ile142Val, NP_001307941.1:p.Ile142Val, NP_001307942.1:p.Ile142Val, XP_024303598.1:p.Ile142Val, XP_047280631.1:p.Ile142Val, XP_047280623.1:p.Ile142Val, XP_047280628.1:p.Ile142Val, XP_047280629.1:p.Ile142Val, XP_047280620.1:p.Ile142Val, XP_047280632.1:p.Ile142Val, XP_047280627.1:p.Ile142Val, XP_047280624.1:p.Ile142Val, XP_047280630.1:p.Ile142Val, XP_047280625.1:p.Ile142Val, XP_047280626.1:p.Ile142Val, XP_047280633.1:p.Ile142Val, XP_047280621.1:p.Ile142Val, XP_047280635.1:p.Ile117Val, XP_047280622.1:p.Ile142Val, XP_047280634.1:p.Ile142Val, XP_047280636.1:p.Ile117Val

                                16.

                                rs1455608344 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C,G [Show Flanks]
                                  Chromosome:
                                  10:125002981 (GRCh38)
                                  10:126691550 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:125002980:T:C,NC_000010.11:125002980:T:G
                                  Gene:
                                  CTBP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000056/2 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.125002981T>C, NC_000010.11:g.125002981T>G, NC_000010.10:g.126691550T>C, NC_000010.10:g.126691550T>G, XM_005269567.4:c.337A>G, XM_005269567.4:c.337A>C, XM_005269567.3:c.337A>G, XM_005269567.3:c.337A>C, XM_005269567.2:c.337A>G, XM_005269567.2:c.337A>C, XM_005269567.1:c.337A>G, XM_005269567.1:c.337A>C, NM_001329.4:c.337A>G, NM_001329.4:c.337A>C, NM_001329.3:c.337A>G, NM_001329.3:c.337A>C, NM_001329.2:c.337A>G, NM_001329.2:c.337A>C, NM_022802.3:c.1957A>G, NM_022802.3:c.1957A>C, NM_022802.2:c.1957A>G, NM_022802.2:c.1957A>C, NM_001290214.3:c.337A>G, NM_001290214.3:c.337A>C, NM_001290214.2:c.337A>G, NM_001290214.2:c.337A>C, NM_001290214.1:c.337A>G, NM_001290214.1:c.337A>C, NM_001083914.3:c.337A>G, NM_001083914.3:c.337A>C, NM_001083914.2:c.337A>G, NM_001083914.2:c.337A>C, NM_001083914.1:c.337A>G, NM_001083914.1:c.337A>C, XM_011539355.3:c.337A>G, XM_011539355.3:c.337A>C, XM_011539355.2:c.337A>G, XM_011539355.2:c.337A>C, XM_011539355.1:c.337A>G, XM_011539355.1:c.337A>C, NM_001290215.3:c.337A>G, NM_001290215.3:c.337A>C, NM_001290215.2:c.337A>G, NM_001290215.2:c.337A>C, NM_001290215.1:c.337A>G, NM_001290215.1:c.337A>C, XM_011539358.3:c.262A>G, XM_011539358.3:c.262A>C, XM_011539358.2:c.262A>G, XM_011539358.2:c.262A>C, XM_011539358.1:c.262A>G, XM_011539358.1:c.262A>C, NM_001363508.2:c.541A>G, NM_001363508.2:c.541A>C, NM_001363508.1:c.541A>G, NM_001363508.1:c.541A>C, NM_001321014.2:c.337A>G, NM_001321014.2:c.337A>C, NM_001321014.1:c.337A>G, NM_001321014.1:c.337A>C, NM_001321012.2:c.337A>G, NM_001321012.2:c.337A>C, NM_001321012.1:c.337A>G, NM_001321012.1:c.337A>C, NM_001321013.2:c.337A>G, NM_001321013.2:c.337A>C, NM_001321013.1:c.337A>G, NM_001321013.1:c.337A>C, XM_024447830.2:c.337A>G, XM_024447830.2:c.337A>C, XM_024447830.1:c.337A>G, XM_024447830.1:c.337A>C, XM_047424675.1:c.337A>G, XM_047424675.1:c.337A>C, XM_047424667.1:c.337A>G, XM_047424667.1:c.337A>C, XM_047424672.1:c.337A>G, XM_047424672.1:c.337A>C, XM_047424673.1:c.337A>G, XM_047424673.1:c.337A>C, XM_047424664.1:c.337A>G, XM_047424664.1:c.337A>C, XM_047424676.1:c.337A>G, XM_047424676.1:c.337A>C, XM_047424671.1:c.337A>G, XM_047424671.1:c.337A>C, XM_047424668.1:c.337A>G, XM_047424668.1:c.337A>C, XM_047424674.1:c.337A>G, XM_047424674.1:c.337A>C, XM_047424669.1:c.337A>G, XM_047424669.1:c.337A>C, XM_047424670.1:c.337A>G, XM_047424670.1:c.337A>C, XM_047424677.1:c.337A>G, XM_047424677.1:c.337A>C, XM_047424665.1:c.337A>G, XM_047424665.1:c.337A>C, XM_047424679.1:c.262A>G, XM_047424679.1:c.262A>C, XM_047424666.1:c.337A>G, XM_047424666.1:c.337A>C, XM_047424678.1:c.337A>G, XM_047424678.1:c.337A>C, XM_047424680.1:c.262A>G, XM_047424680.1:c.262A>C, XP_005269624.1:p.Ile113Val, XP_005269624.1:p.Ile113Leu, NP_001320.1:p.Ile113Val, NP_001320.1:p.Ile113Leu, NP_073713.2:p.Ile653Val, NP_073713.2:p.Ile653Leu, NP_001277143.1:p.Ile113Val, NP_001277143.1:p.Ile113Leu, NP_001077383.1:p.Ile113Val, NP_001077383.1:p.Ile113Leu, XP_011537657.1:p.Ile113Val, XP_011537657.1:p.Ile113Leu, NP_001277144.1:p.Ile113Val, NP_001277144.1:p.Ile113Leu, XP_011537660.1:p.Ile88Val, XP_011537660.1:p.Ile88Leu, NP_001350437.1:p.Ile181Val, NP_001350437.1:p.Ile181Leu, NP_001307943.1:p.Ile113Val, NP_001307943.1:p.Ile113Leu, NP_001307941.1:p.Ile113Val, NP_001307941.1:p.Ile113Leu, NP_001307942.1:p.Ile113Val, NP_001307942.1:p.Ile113Leu, XP_024303598.1:p.Ile113Val, XP_024303598.1:p.Ile113Leu, XP_047280631.1:p.Ile113Val, XP_047280631.1:p.Ile113Leu, XP_047280623.1:p.Ile113Val, XP_047280623.1:p.Ile113Leu, XP_047280628.1:p.Ile113Val, XP_047280628.1:p.Ile113Leu, XP_047280629.1:p.Ile113Val, XP_047280629.1:p.Ile113Leu, XP_047280620.1:p.Ile113Val, XP_047280620.1:p.Ile113Leu, XP_047280632.1:p.Ile113Val, XP_047280632.1:p.Ile113Leu, XP_047280627.1:p.Ile113Val, XP_047280627.1:p.Ile113Leu, XP_047280624.1:p.Ile113Val, XP_047280624.1:p.Ile113Leu, XP_047280630.1:p.Ile113Val, XP_047280630.1:p.Ile113Leu, XP_047280625.1:p.Ile113Val, XP_047280625.1:p.Ile113Leu, XP_047280626.1:p.Ile113Val, XP_047280626.1:p.Ile113Leu, XP_047280633.1:p.Ile113Val, XP_047280633.1:p.Ile113Leu, XP_047280621.1:p.Ile113Val, XP_047280621.1:p.Ile113Leu, XP_047280635.1:p.Ile88Val, XP_047280635.1:p.Ile88Leu, XP_047280622.1:p.Ile113Val, XP_047280622.1:p.Ile113Leu, XP_047280634.1:p.Ile113Val, XP_047280634.1:p.Ile113Leu, XP_047280636.1:p.Ile88Val, XP_047280636.1:p.Ile88Leu

                                  17.

                                  rs1449203333 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:125003485 (GRCh38)
                                    10:126692054 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:125003484:G:A
                                    Gene:
                                    CTBP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
                                    HGVS:
                                    NC_000010.11:g.125003485G>A, NC_000010.10:g.126692054G>A, XM_005269567.4:c.66C>T, XM_005269567.3:c.66C>T, XM_005269567.2:c.66C>T, XM_005269567.1:c.66C>T, NM_001329.4:c.66C>T, NM_001329.3:c.66C>T, NM_001329.2:c.66C>T, NM_022802.3:c.1686C>T, NM_022802.2:c.1686C>T, NM_001290214.3:c.66C>T, NM_001290214.2:c.66C>T, NM_001290214.1:c.66C>T, NM_001083914.3:c.66C>T, NM_001083914.2:c.66C>T, NM_001083914.1:c.66C>T, XM_011539355.3:c.66C>T, XM_011539355.2:c.66C>T, XM_011539355.1:c.66C>T, NM_001290215.3:c.66C>T, NM_001290215.2:c.66C>T, NM_001290215.1:c.66C>T, XM_011539358.3:c.-10C>T, XM_011539358.2:c.-10C>T, XM_011539358.1:c.-10C>T, NM_001363508.2:c.270C>T, NM_001363508.1:c.270C>T, NM_001321014.2:c.66C>T, NM_001321014.1:c.66C>T, NM_001321012.2:c.66C>T, NM_001321012.1:c.66C>T, NM_001321013.2:c.66C>T, NM_001321013.1:c.66C>T, XM_024447830.2:c.66C>T, XM_024447830.1:c.66C>T, XM_047424675.1:c.66C>T, XM_047424667.1:c.66C>T, XM_047424672.1:c.66C>T, XM_047424673.1:c.66C>T, XM_047424664.1:c.66C>T, XM_047424676.1:c.66C>T, XM_047424671.1:c.66C>T, XM_047424668.1:c.66C>T, XM_047424674.1:c.66C>T, XM_047424669.1:c.66C>T, XM_047424670.1:c.66C>T, XM_047424677.1:c.66C>T, XM_047424665.1:c.66C>T, XM_047424679.1:c.-10C>T, XM_047424666.1:c.66C>T, XM_047424678.1:c.66C>T, XM_047424680.1:c.-10C>T

                                    18.

                                    rs1446844092 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      10:124994481 (GRCh38)
                                      10:126683050 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:124994480:A:T
                                      Gene:
                                      CTBP2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000071/1 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.124994481A>T, NC_000010.10:g.126683050A>T, XM_005269567.4:c.768T>A, XM_005269567.3:c.768T>A, XM_005269567.2:c.768T>A, XM_005269567.1:c.768T>A, NM_001329.4:c.768T>A, NM_001329.3:c.768T>A, NM_001329.2:c.768T>A, NM_022802.3:c.2388T>A, NM_022802.2:c.2388T>A, NM_001290214.3:c.768T>A, NM_001290214.2:c.768T>A, NM_001290214.1:c.768T>A, NM_001083914.3:c.768T>A, NM_001083914.2:c.768T>A, NM_001083914.1:c.768T>A, XM_011539355.3:c.768T>A, XM_011539355.2:c.768T>A, XM_011539355.1:c.768T>A, NM_001290215.3:c.768T>A, NM_001290215.2:c.768T>A, NM_001290215.1:c.768T>A, XM_011539358.3:c.693T>A, XM_011539358.2:c.693T>A, XM_011539358.1:c.693T>A, NM_001363508.2:c.972T>A, NM_001363508.1:c.972T>A, NM_001321014.2:c.768T>A, NM_001321014.1:c.768T>A, NM_001321012.2:c.768T>A, NM_001321012.1:c.768T>A, NM_001321013.2:c.768T>A, NM_001321013.1:c.768T>A, XM_024447830.2:c.768T>A, XM_024447830.1:c.768T>A, XM_047424675.1:c.768T>A, XM_047424667.1:c.768T>A, XM_047424672.1:c.768T>A, XM_047424673.1:c.768T>A, XM_047424664.1:c.768T>A, XM_047424676.1:c.768T>A, XM_047424671.1:c.768T>A, XM_047424668.1:c.768T>A, XM_047424674.1:c.768T>A, XM_047424669.1:c.768T>A, XM_047424670.1:c.768T>A, XM_047424677.1:c.768T>A, XM_047424665.1:c.768T>A, XM_047424679.1:c.693T>A, XM_047424666.1:c.768T>A, XM_047424678.1:c.768T>A, XM_047424680.1:c.693T>A, XP_005269624.1:p.Phe256Leu, NP_001320.1:p.Phe256Leu, NP_073713.2:p.Phe796Leu, NP_001277143.1:p.Phe256Leu, NP_001077383.1:p.Phe256Leu, XP_011537657.1:p.Phe256Leu, NP_001277144.1:p.Phe256Leu, XP_011537660.1:p.Phe231Leu, NP_001350437.1:p.Phe324Leu, NP_001307943.1:p.Phe256Leu, NP_001307941.1:p.Phe256Leu, NP_001307942.1:p.Phe256Leu, XP_024303598.1:p.Phe256Leu, XP_047280631.1:p.Phe256Leu, XP_047280623.1:p.Phe256Leu, XP_047280628.1:p.Phe256Leu, XP_047280629.1:p.Phe256Leu, XP_047280620.1:p.Phe256Leu, XP_047280632.1:p.Phe256Leu, XP_047280627.1:p.Phe256Leu, XP_047280624.1:p.Phe256Leu, XP_047280630.1:p.Phe256Leu, XP_047280625.1:p.Phe256Leu, XP_047280626.1:p.Phe256Leu, XP_047280633.1:p.Phe256Leu, XP_047280621.1:p.Phe256Leu, XP_047280635.1:p.Phe231Leu, XP_047280622.1:p.Phe256Leu, XP_047280634.1:p.Phe256Leu, XP_047280636.1:p.Phe231Leu

                                      19.

                                      rs1444545747 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        10:124993870 (GRCh38)
                                        10:126682439 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:124993869:T:G
                                        Gene:
                                        CTBP2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.124993870T>G, NC_000010.10:g.126682439T>G, XM_005269567.4:c.896A>C, XM_005269567.3:c.896A>C, XM_005269567.2:c.896A>C, XM_005269567.1:c.896A>C, NM_001329.4:c.896A>C, NM_001329.3:c.896A>C, NM_001329.2:c.896A>C, NM_022802.3:c.2516A>C, NM_022802.2:c.2516A>C, NM_001290214.3:c.896A>C, NM_001290214.2:c.896A>C, NM_001290214.1:c.896A>C, NM_001083914.3:c.896A>C, NM_001083914.2:c.896A>C, NM_001083914.1:c.896A>C, XM_011539355.3:c.896A>C, XM_011539355.2:c.896A>C, XM_011539355.1:c.896A>C, NM_001290215.3:c.896A>C, NM_001290215.2:c.896A>C, NM_001290215.1:c.896A>C, XM_011539358.3:c.821A>C, XM_011539358.2:c.821A>C, XM_011539358.1:c.821A>C, NM_001363508.2:c.1100A>C, NM_001363508.1:c.1100A>C, NM_001321014.2:c.896A>C, NM_001321014.1:c.896A>C, NM_001321012.2:c.896A>C, NM_001321012.1:c.896A>C, NM_001321013.2:c.896A>C, NM_001321013.1:c.896A>C, XM_024447830.2:c.896A>C, XM_024447830.1:c.896A>C, XM_047424675.1:c.896A>C, XM_047424667.1:c.896A>C, XM_047424672.1:c.896A>C, XM_047424673.1:c.896A>C, XM_047424664.1:c.896A>C, XM_047424676.1:c.896A>C, XM_047424671.1:c.896A>C, XM_047424668.1:c.896A>C, XM_047424674.1:c.896A>C, XM_047424669.1:c.896A>C, XM_047424670.1:c.896A>C, XM_047424677.1:c.896A>C, XM_047424665.1:c.896A>C, XM_047424679.1:c.821A>C, XM_047424666.1:c.896A>C, XM_047424678.1:c.896A>C, XM_047424680.1:c.821A>C, XP_005269624.1:p.Glu299Ala, NP_001320.1:p.Glu299Ala, NP_073713.2:p.Glu839Ala, NP_001277143.1:p.Glu299Ala, NP_001077383.1:p.Glu299Ala, XP_011537657.1:p.Glu299Ala, NP_001277144.1:p.Glu299Ala, XP_011537660.1:p.Glu274Ala, NP_001350437.1:p.Glu367Ala, NP_001307943.1:p.Glu299Ala, NP_001307941.1:p.Glu299Ala, NP_001307942.1:p.Glu299Ala, XP_024303598.1:p.Glu299Ala, XP_047280631.1:p.Glu299Ala, XP_047280623.1:p.Glu299Ala, XP_047280628.1:p.Glu299Ala, XP_047280629.1:p.Glu299Ala, XP_047280620.1:p.Glu299Ala, XP_047280632.1:p.Glu299Ala, XP_047280627.1:p.Glu299Ala, XP_047280624.1:p.Glu299Ala, XP_047280630.1:p.Glu299Ala, XP_047280625.1:p.Glu299Ala, XP_047280626.1:p.Glu299Ala, XP_047280633.1:p.Glu299Ala, XP_047280621.1:p.Glu299Ala, XP_047280635.1:p.Glu274Ala, XP_047280622.1:p.Glu299Ala, XP_047280634.1:p.Glu299Ala, XP_047280636.1:p.Glu274Ala

                                        20.

                                        rs1441474323 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          10:124992804 (GRCh38)
                                          10:126681373 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:124992803:G:T
                                          Gene:
                                          CTBP2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000010.11:g.124992804G>T, NC_000010.10:g.126681373G>T, XM_005269567.4:c.1048C>A, XM_005269567.3:c.1048C>A, XM_005269567.2:c.1048C>A, XM_005269567.1:c.1048C>A, NM_001329.4:c.1048C>A, NM_001329.3:c.1048C>A, NM_001329.2:c.1048C>A, NM_022802.3:c.2668C>A, NM_022802.2:c.2668C>A, NM_001290214.3:c.1048C>A, NM_001290214.2:c.1048C>A, NM_001290214.1:c.1048C>A, NM_001083914.3:c.1048C>A, NM_001083914.2:c.1048C>A, NM_001083914.1:c.1048C>A, XM_011539355.3:c.1048C>A, XM_011539355.2:c.1048C>A, XM_011539355.1:c.1048C>A, NM_001290215.3:c.1048C>A, NM_001290215.2:c.1048C>A, NM_001290215.1:c.1048C>A, XM_011539358.3:c.973C>A, XM_011539358.2:c.973C>A, XM_011539358.1:c.973C>A, NM_001363508.2:c.1252C>A, NM_001363508.1:c.1252C>A, NM_001321014.2:c.1048C>A, NM_001321014.1:c.1048C>A, NM_001321012.2:c.1048C>A, NM_001321012.1:c.1048C>A, NM_001321013.2:c.1048C>A, NM_001321013.1:c.1048C>A, XM_024447830.2:c.1048C>A, XM_024447830.1:c.1048C>A, XM_047424675.1:c.1048C>A, XM_047424667.1:c.1048C>A, XM_047424672.1:c.1048C>A, XM_047424673.1:c.1048C>A, XM_047424664.1:c.1048C>A, XM_047424676.1:c.1048C>A, XM_047424671.1:c.1048C>A, XM_047424668.1:c.1048C>A, XM_047424674.1:c.1048C>A, XM_047424669.1:c.1048C>A, XM_047424670.1:c.1048C>A, XM_047424677.1:c.1048C>A, XM_047424665.1:c.1048C>A, XM_047424679.1:c.973C>A, XM_047424666.1:c.1048C>A, XM_047424678.1:c.1048C>A, XM_047424680.1:c.973C>A, XP_005269624.1:p.Pro350Thr, NP_001320.1:p.Pro350Thr, NP_073713.2:p.Pro890Thr, NP_001277143.1:p.Pro350Thr, NP_001077383.1:p.Pro350Thr, XP_011537657.1:p.Pro350Thr, NP_001277144.1:p.Pro350Thr, XP_011537660.1:p.Pro325Thr, NP_001350437.1:p.Pro418Thr, NP_001307943.1:p.Pro350Thr, NP_001307941.1:p.Pro350Thr, NP_001307942.1:p.Pro350Thr, XP_024303598.1:p.Pro350Thr, XP_047280631.1:p.Pro350Thr, XP_047280623.1:p.Pro350Thr, XP_047280628.1:p.Pro350Thr, XP_047280629.1:p.Pro350Thr, XP_047280620.1:p.Pro350Thr, XP_047280632.1:p.Pro350Thr, XP_047280627.1:p.Pro350Thr, XP_047280624.1:p.Pro350Thr, XP_047280630.1:p.Pro350Thr, XP_047280625.1:p.Pro350Thr, XP_047280626.1:p.Pro350Thr, XP_047280633.1:p.Pro350Thr, XP_047280621.1:p.Pro350Thr, XP_047280635.1:p.Pro325Thr, XP_047280622.1:p.Pro350Thr, XP_047280634.1:p.Pro350Thr, XP_047280636.1:p.Pro325Thr

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