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Items: 1 to 20 of 1039

1.

rs1491317719 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    2:218405890 (GRCh38)
    2:219270614 (GRCh37)
    Canonical SPDI:
    NC_000002.12:218405890::C
    Gene:
    CTDSP1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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_000002.12:g.218405890_218405891insC, NC_000002.11:g.219270613_219270614insC, NG_030418.1:g.12553_12554insC, NM_021198.3:c.*1465_*1466insC, NM_021198.2:c.*1465_*1466insC, NM_182642.3:c.*1465_*1466insC, NM_182642.2:c.*1465_*1466insC, NM_001206878.2:c.*1465_*1466insC, NM_001206878.1:c.*1465_*1466insC, NM_001400268.1:c.*1465_*1466insC, NR_174469.1:n.2659_2660insC, NR_174464.1:n.2604_2605insC, NR_174465.1:n.2572_2573insC, NR_174461.1:n.2569_2570insC, NM_001400271.1:c.*1465_*1466insC, NR_174468.1:n.2464_2465insC, NR_174467.1:n.2463_2464insC, NM_001400272.1:c.*1465_*1466insC, NM_001400274.1:c.*1465_*1466insC, NM_001400275.1:c.*1465_*1466insC, NM_001400276.1:c.*1465_*1466insC, NR_174456.1:n.2348_2349insC, NR_174457.1:n.2345_2346insC, NR_174462.1:n.2341_2342insC, NR_174463.1:n.2338_2339insC, NR_174458.1:n.2322_2323insC, NR_174466.1:n.2310_2311insC, NM_001400273.1:c.*1465_*1466insC, NR_174459.1:n.2284_2285insC, NR_174460.1:n.2281_2282insC, XM_011511569.3:c.*1465_*1466insC, XM_011511569.2:c.*1465_*1466insC, XM_011511569.1:c.*1465_*1466insC, XM_011511570.2:c.*1465_*1466insC, XM_011511570.1:c.*1465_*1466insC

    2.

    rs1491120035 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      2:218405892 (GRCh38)
      2:219270615 (GRCh37)
      Canonical SPDI:
      NC_000002.12:218405889:TGTG:TG
      Gene:
      CTDSP1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TGTG=0./0 (ALFA)
      -=0.000036/5 (GnomAD)
      -=0.000038/10 (TOPMED)
      HGVS:
      NC_000002.12:g.218405890TG[1], NC_000002.11:g.219270613TG[1], NG_030418.1:g.12553TG[1], NM_021198.3:c.*1465TG[1], NM_021198.2:c.*1465TG[1], NM_182642.3:c.*1465TG[1], NM_182642.2:c.*1465TG[1], NM_001206878.2:c.*1465TG[1], NM_001206878.1:c.*1465TG[1], NM_001400268.1:c.*1465TG[1], NR_174469.1:n.2659TG[1], NR_174464.1:n.2604TG[1], NR_174465.1:n.2572TG[1], NR_174461.1:n.2569TG[1], NM_001400271.1:c.*1465TG[1], NR_174468.1:n.2464TG[1], NR_174467.1:n.2463TG[1], NM_001400272.1:c.*1465TG[1], NM_001400274.1:c.*1465TG[1], NM_001400275.1:c.*1465TG[1], NM_001400276.1:c.*1465TG[1], NR_174456.1:n.2348TG[1], NR_174457.1:n.2345TG[1], NR_174462.1:n.2341TG[1], NR_174463.1:n.2338TG[1], NR_174458.1:n.2322TG[1], NR_174466.1:n.2310TG[1], NM_001400273.1:c.*1465TG[1], NR_174459.1:n.2284TG[1], NR_174460.1:n.2281TG[1], XM_011511569.3:c.*1465TG[1], XM_011511569.2:c.*1465TG[1], XM_011511569.1:c.*1465TG[1], XM_011511570.2:c.*1465TG[1], XM_011511570.1:c.*1465TG[1]

      3.

      rs1489488797 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        2:218400409 (GRCh38)
        2:219265132 (GRCh37)
        Canonical SPDI:
        NC_000002.12:218400408:G:A,NC_000002.12:218400408:G:T
        Gene:
        CTDSP1 (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        T=0.333333/2 (GnomAD_exomes)
        HGVS:

        4.

        rs1489388850 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:218405708 (GRCh38)
          2:219270431 (GRCh37)
          Canonical SPDI:
          NC_000002.12:218405707:C:T
          Gene:
          CTDSP1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000014/2 (GnomAD)
          T=0.000023/6 (TOPMED)
          HGVS:
          NC_000002.12:g.218405708C>T, NC_000002.11:g.219270431C>T, NG_030418.1:g.12371C>T, NM_021198.3:c.*1283C>T, NM_021198.2:c.*1283C>T, NM_182642.3:c.*1283C>T, NM_182642.2:c.*1283C>T, NM_001206878.2:c.*1283C>T, NM_001206878.1:c.*1283C>T, NM_001400268.1:c.*1283C>T, NR_174469.1:n.2477C>T, NR_174464.1:n.2422C>T, NR_174465.1:n.2390C>T, NR_174461.1:n.2387C>T, NM_001400271.1:c.*1283C>T, NR_174468.1:n.2282C>T, NR_174467.1:n.2281C>T, NM_001400272.1:c.*1283C>T, NM_001400274.1:c.*1283C>T, NM_001400275.1:c.*1283C>T, NM_001400276.1:c.*1283C>T, NR_174456.1:n.2166C>T, NR_174457.1:n.2163C>T, NR_174462.1:n.2159C>T, NR_174463.1:n.2156C>T, NR_174458.1:n.2140C>T, NR_174466.1:n.2128C>T, NM_001400273.1:c.*1283C>T, NR_174459.1:n.2102C>T, NR_174460.1:n.2099C>T, XM_011511569.3:c.*1283C>T, XM_011511569.2:c.*1283C>T, XM_011511569.1:c.*1283C>T, XM_011511570.2:c.*1283C>T, XM_011511570.1:c.*1283C>T

          5.

          rs1487750833 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            G>- [Show Flanks]
            Chromosome:
            2:218404935 (GRCh38)
            2:219269658 (GRCh37)
            Canonical SPDI:
            NC_000002.12:218404934:GGG:GG
            Gene:
            CTDSP1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0.000071/1 (ALFA)
            -=0.000023/6 (TOPMED)
            -=0.000036/5 (GnomAD)
            HGVS:
            NC_000002.12:g.218404937del, NC_000002.11:g.219269660del, NG_030418.1:g.11600del, NM_021198.3:c.*512del, NM_021198.2:c.*512del, NM_182642.3:c.*512del, NM_182642.2:c.*512del, NM_001206878.2:c.*512del, NM_001206878.1:c.*512del, NM_001400268.1:c.*512del, NR_174469.1:n.1706del, NR_174464.1:n.1651del, NR_174465.1:n.1619del, NR_174461.1:n.1616del, NM_001400271.1:c.*512del, NR_174468.1:n.1511del, NR_174467.1:n.1510del, NM_001400272.1:c.*512del, NM_001400274.1:c.*512del, NM_001400275.1:c.*512del, NM_001400276.1:c.*512del, NR_174456.1:n.1395del, NR_174457.1:n.1392del, NR_174462.1:n.1388del, NR_174463.1:n.1385del, NR_174458.1:n.1369del, NR_174466.1:n.1357del, NM_001400273.1:c.*512del, NR_174459.1:n.1331del, NR_174460.1:n.1328del, XM_011511569.3:c.*512del, XM_011511569.2:c.*512del, XM_011511569.1:c.*512del, XM_011511570.2:c.*512del, XM_011511570.1:c.*512del

            6.

            rs1486057232 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G,T [Show Flanks]
              Chromosome:
              2:218400666 (GRCh38)
              2:219265389 (GRCh37)
              Canonical SPDI:
              NC_000002.12:218400665:C:A,NC_000002.12:218400665:C:G,NC_000002.12:218400665:C:T
              Gene:
              CTDSP1 (Varview), MIR26B (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000051/1 (ALFA)
              T=0.000004/1 (TOPMED)
              G=0.000008/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1485896338 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C,T [Show Flanks]
                Chromosome:
                2:218400576 (GRCh38)
                2:219265299 (GRCh37)
                Canonical SPDI:
                NC_000002.12:218400575:G:C,NC_000002.12:218400575:G:T
                Gene:
                CTDSP1 (Varview)
                Functional Consequence:
                intron_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                HGVS:

                8.

                rs1485340634 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:218403059 (GRCh38)
                  2:219267782 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:218403058:G:A
                  Gene:
                  CTDSP1 (Varview), MIR26B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.218403059G>A, NC_000002.11:g.219267782G>A, NG_030418.1:g.9722G>A, NM_021198.3:c.403G>A, NM_021198.2:c.403G>A, NM_182642.3:c.400G>A, NM_182642.2:c.400G>A, NM_001206878.2:c.400G>A, NM_001206878.1:c.400G>A, NM_001400268.1:c.400G>A, NR_174469.1:n.811G>A, NR_174464.1:n.756G>A, NR_174465.1:n.724G>A, NR_174461.1:n.721G>A, NM_001400271.1:c.427G>A, NR_174468.1:n.623G>A, NR_174467.1:n.615G>A, NM_001400272.1:c.403G>A, NM_001400274.1:c.346G>A, NM_001400275.1:c.343G>A, NM_001400276.1:c.298G>A, NR_174456.1:n.500G>A, NR_174457.1:n.497G>A, NR_174462.1:n.493G>A, NR_174463.1:n.490G>A, NR_174458.1:n.474G>A, NR_174466.1:n.462G>A, NM_001400273.1:c.352G>A, NR_174459.1:n.436G>A, NR_174460.1:n.433G>A, NM_001400269.1:c.403G>A, NM_001400270.1:c.400G>A, XM_011511569.3:c.802G>A, XM_011511569.2:c.802G>A, XM_011511569.1:c.802G>A, XM_011511570.2:c.799G>A, XM_011511570.1:c.799G>A, NM_001206879.1:c.-21G>A, NP_067021.1:p.Val135Met, NP_872580.1:p.Val134Met, NP_001193807.1:p.Val134Met, NP_001387197.1:p.Val134Met, NP_001387200.1:p.Val143Met, NP_001387201.1:p.Val135Met, NP_001387203.1:p.Val116Met, NP_001387204.1:p.Val115Met, NP_001387205.1:p.Val100Met, NP_001387202.1:p.Val118Met, NP_001387198.1:p.Val135Met, NP_001387199.1:p.Val134Met, XP_011509871.1:p.Val268Met, XP_011509872.1:p.Val267Met

                  9.

                  rs1485099175 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:218404935 (GRCh38)
                    2:219269658 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:218404934:G:A
                    Gene:
                    CTDSP1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000019/5 (TOPMED)
                    HGVS:
                    NC_000002.12:g.218404935G>A, NC_000002.11:g.219269658G>A, NG_030418.1:g.11598G>A, NM_021198.3:c.*510G>A, NM_021198.2:c.*510G>A, NM_182642.3:c.*510G>A, NM_182642.2:c.*510G>A, NM_001206878.2:c.*510G>A, NM_001206878.1:c.*510G>A, NM_001400268.1:c.*510G>A, NR_174469.1:n.1704G>A, NR_174464.1:n.1649G>A, NR_174465.1:n.1617G>A, NR_174461.1:n.1614G>A, NM_001400271.1:c.*510G>A, NR_174468.1:n.1509G>A, NR_174467.1:n.1508G>A, NM_001400272.1:c.*510G>A, NM_001400274.1:c.*510G>A, NM_001400275.1:c.*510G>A, NM_001400276.1:c.*510G>A, NR_174456.1:n.1393G>A, NR_174457.1:n.1390G>A, NR_174462.1:n.1386G>A, NR_174463.1:n.1383G>A, NR_174458.1:n.1367G>A, NR_174466.1:n.1355G>A, NM_001400273.1:c.*510G>A, NR_174459.1:n.1329G>A, NR_174460.1:n.1326G>A, XM_011511569.3:c.*510G>A, XM_011511569.2:c.*510G>A, XM_011511569.1:c.*510G>A, XM_011511570.2:c.*510G>A, XM_011511570.1:c.*510G>A

                    10.

                    rs1484064924 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      2:218400716 (GRCh38)
                      2:219265439 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:218400715:C:A,NC_000002.12:218400715:C:T
                      Gene:
                      CTDSP1 (Varview), MIR26B (Varview)
                      Functional Consequence:
                      synonymous_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000014/2 (GnomAD)
                      HGVS:

                      11.

                      rs1483336147 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:218401587 (GRCh38)
                        2:219266310 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:218401586:C:T
                        Gene:
                        CTDSP1 (Varview), MIR26B (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,stop_gained,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000224/1 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000223/1 (Estonian)
                        HGVS:
                        NC_000002.12:g.218401587C>T, NC_000002.11:g.219266310C>T, NG_030418.1:g.8250C>T, NM_021198.3:c.91C>T, NM_021198.2:c.91C>T, NM_182642.3:c.91C>T, NM_182642.2:c.91C>T, NM_001206878.2:c.91C>T, NM_001206878.1:c.91C>T, NM_001400268.1:c.91C>T, NR_174469.1:n.314C>T, NR_174464.1:n.447C>T, NR_174465.1:n.412C>T, NR_174461.1:n.412C>T, NM_001400271.1:c.91C>T, NR_174468.1:n.314C>T, NR_174467.1:n.306C>T, NM_001400272.1:c.91C>T, NM_001400274.1:c.91C>T, NM_001400275.1:c.91C>T, NM_001400276.1:c.91C>T, NR_174456.1:n.188C>T, NR_174457.1:n.188C>T, NR_174462.1:n.181C>T, NR_174463.1:n.181C>T, NR_174458.1:n.165C>T, NR_174466.1:n.153C>T, NM_001400273.1:c.40C>T, NR_174459.1:n.124C>T, NR_174460.1:n.124C>T, NM_001400269.1:c.91C>T, NM_001400270.1:c.91C>T, XM_011511569.3:c.490C>T, XM_011511569.2:c.490C>T, XM_011511569.1:c.490C>T, XM_011511570.2:c.490C>T, XM_011511570.1:c.490C>T, NM_001206879.1:c.-330C>T, NP_067021.1:p.Gln31Ter, NP_872580.1:p.Gln31Ter, NP_001193807.1:p.Gln31Ter, NP_001387197.1:p.Gln31Ter, NP_001387200.1:p.Gln31Ter, NP_001387201.1:p.Gln31Ter, NP_001387203.1:p.Gln31Ter, NP_001387204.1:p.Gln31Ter, NP_001387205.1:p.Gln31Ter, NP_001387202.1:p.Gln14Ter, NP_001387198.1:p.Gln31Ter, NP_001387199.1:p.Gln31Ter, XP_011509871.1:p.Gln164Ter, XP_011509872.1:p.Gln164Ter

                        12.

                        rs1482513940 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CG>- [Show Flanks]
                          Chromosome:
                          2:218405708 (GRCh38)
                          2:219270431 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:218405706:GCG:G
                          Gene:
                          CTDSP1 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          NC_000002.12:g.218405708_218405709del, NC_000002.11:g.219270431_219270432del, NG_030418.1:g.12371_12372del, NM_021198.3:c.*1283_*1284del, NM_021198.2:c.*1283_*1284del, NM_182642.3:c.*1283_*1284del, NM_182642.2:c.*1283_*1284del, NM_001206878.2:c.*1283_*1284del, NM_001206878.1:c.*1283_*1284del, NM_001400268.1:c.*1283_*1284del, NR_174469.1:n.2477_2478del, NR_174464.1:n.2422_2423del, NR_174465.1:n.2390_2391del, NR_174461.1:n.2387_2388del, NM_001400271.1:c.*1283_*1284del, NR_174468.1:n.2282_2283del, NR_174467.1:n.2281_2282del, NM_001400272.1:c.*1283_*1284del, NM_001400274.1:c.*1283_*1284del, NM_001400275.1:c.*1283_*1284del, NM_001400276.1:c.*1283_*1284del, NR_174456.1:n.2166_2167del, NR_174457.1:n.2163_2164del, NR_174462.1:n.2159_2160del, NR_174463.1:n.2156_2157del, NR_174458.1:n.2140_2141del, NR_174466.1:n.2128_2129del, NM_001400273.1:c.*1283_*1284del, NR_174459.1:n.2102_2103del, NR_174460.1:n.2099_2100del, XM_011511569.3:c.*1283_*1284del, XM_011511569.2:c.*1283_*1284del, XM_011511569.1:c.*1283_*1284del, XM_011511570.2:c.*1283_*1284del, XM_011511570.1:c.*1283_*1284del

                          13.

                          rs1481805465 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            2:218400776 (GRCh38)
                            2:219265499 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:218400775:C:A,NC_000002.12:218400775:C:T
                            Gene:
                            CTDSP1 (Varview), MIR26B (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1480775387 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:218405748 (GRCh38)
                              2:219270471 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:218405747:A:G
                              Gene:
                              CTDSP1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_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_000002.12:g.218405748A>G, NC_000002.11:g.219270471A>G, NG_030418.1:g.12411A>G, NM_021198.3:c.*1323A>G, NM_021198.2:c.*1323A>G, NM_182642.3:c.*1323A>G, NM_182642.2:c.*1323A>G, NM_001206878.2:c.*1323A>G, NM_001206878.1:c.*1323A>G, NM_001400268.1:c.*1323A>G, NR_174469.1:n.2517A>G, NR_174464.1:n.2462A>G, NR_174465.1:n.2430A>G, NR_174461.1:n.2427A>G, NM_001400271.1:c.*1323A>G, NR_174468.1:n.2322A>G, NR_174467.1:n.2321A>G, NM_001400272.1:c.*1323A>G, NM_001400274.1:c.*1323A>G, NM_001400275.1:c.*1323A>G, NM_001400276.1:c.*1323A>G, NR_174456.1:n.2206A>G, NR_174457.1:n.2203A>G, NR_174462.1:n.2199A>G, NR_174463.1:n.2196A>G, NR_174458.1:n.2180A>G, NR_174466.1:n.2168A>G, NM_001400273.1:c.*1323A>G, NR_174459.1:n.2142A>G, NR_174460.1:n.2139A>G, XM_011511569.3:c.*1323A>G, XM_011511569.2:c.*1323A>G, XM_011511569.1:c.*1323A>G, XM_011511570.2:c.*1323A>G, XM_011511570.1:c.*1323A>G

                              15.

                              rs1480137478 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->TCT [Show Flanks]
                                Chromosome:
                                2:218405091 (GRCh38)
                                2:219269815 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:218405091:CTTCT:CTTCTTCT
                                Gene:
                                CTDSP1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CTTCTTCT=0./0 (ALFA)
                                CTT=0.000011/3 (TOPMED)
                                CTT=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000002.12:g.218405094_218405096dup, NC_000002.11:g.219269817_219269819dup, NG_030418.1:g.11757_11759dup, NM_021198.3:c.*669_*671dup, NM_021198.2:c.*669_*671dup, NM_182642.3:c.*669_*671dup, NM_182642.2:c.*669_*671dup, NM_001206878.2:c.*669_*671dup, NM_001206878.1:c.*669_*671dup, NM_001400268.1:c.*669_*671dup, NR_174469.1:n.1863_1865dup, NR_174464.1:n.1808_1810dup, NR_174465.1:n.1776_1778dup, NR_174461.1:n.1773_1775dup, NM_001400271.1:c.*669_*671dup, NR_174468.1:n.1668_1670dup, NR_174467.1:n.1667_1669dup, NM_001400272.1:c.*669_*671dup, NM_001400274.1:c.*669_*671dup, NM_001400275.1:c.*669_*671dup, NM_001400276.1:c.*669_*671dup, NR_174456.1:n.1552_1554dup, NR_174457.1:n.1549_1551dup, NR_174462.1:n.1545_1547dup, NR_174463.1:n.1542_1544dup, NR_174458.1:n.1526_1528dup, NR_174466.1:n.1514_1516dup, NM_001400273.1:c.*669_*671dup, NR_174459.1:n.1488_1490dup, NR_174460.1:n.1485_1487dup, XM_011511569.3:c.*669_*671dup, XM_011511569.2:c.*669_*671dup, XM_011511569.1:c.*669_*671dup, XM_011511570.2:c.*669_*671dup, XM_011511570.1:c.*669_*671dup

                                16.

                                rs1478871757 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  2:218405575 (GRCh38)
                                  2:219270298 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:218405574:C:G
                                  Gene:
                                  CTDSP1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.218405575C>G, NC_000002.11:g.219270298C>G, NG_030418.1:g.12238C>G, NM_021198.3:c.*1150C>G, NM_021198.2:c.*1150C>G, NM_182642.3:c.*1150C>G, NM_182642.2:c.*1150C>G, NM_001206878.2:c.*1150C>G, NM_001206878.1:c.*1150C>G, NM_001400268.1:c.*1150C>G, NR_174469.1:n.2344C>G, NR_174464.1:n.2289C>G, NR_174465.1:n.2257C>G, NR_174461.1:n.2254C>G, NM_001400271.1:c.*1150C>G, NR_174468.1:n.2149C>G, NR_174467.1:n.2148C>G, NM_001400272.1:c.*1150C>G, NM_001400274.1:c.*1150C>G, NM_001400275.1:c.*1150C>G, NM_001400276.1:c.*1150C>G, NR_174456.1:n.2033C>G, NR_174457.1:n.2030C>G, NR_174462.1:n.2026C>G, NR_174463.1:n.2023C>G, NR_174458.1:n.2007C>G, NR_174466.1:n.1995C>G, NM_001400273.1:c.*1150C>G, NR_174459.1:n.1969C>G, NR_174460.1:n.1966C>G, XM_011511569.3:c.*1150C>G, XM_011511569.2:c.*1150C>G, XM_011511569.1:c.*1150C>G, XM_011511570.2:c.*1150C>G, XM_011511570.1:c.*1150C>G

                                  17.

                                  rs1478121110 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:218404689 (GRCh38)
                                    2:219269412 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:218404688:C:T
                                    Gene:
                                    CTDSP1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.218404689C>T, NC_000002.11:g.219269412C>T, NG_030418.1:g.11352C>T, NM_021198.3:c.*264C>T, NM_021198.2:c.*264C>T, NM_182642.3:c.*264C>T, NM_182642.2:c.*264C>T, NM_001206878.2:c.*264C>T, NM_001206878.1:c.*264C>T, NM_001400268.1:c.*264C>T, NR_174469.1:n.1458C>T, NR_174464.1:n.1403C>T, NR_174465.1:n.1371C>T, NR_174461.1:n.1368C>T, NM_001400271.1:c.*264C>T, NR_174468.1:n.1263C>T, NR_174467.1:n.1262C>T, NM_001400272.1:c.*264C>T, NM_001400274.1:c.*264C>T, NM_001400275.1:c.*264C>T, NM_001400276.1:c.*264C>T, NR_174456.1:n.1147C>T, NR_174457.1:n.1144C>T, NR_174462.1:n.1140C>T, NR_174463.1:n.1137C>T, NR_174458.1:n.1121C>T, NR_174466.1:n.1109C>T, NM_001400273.1:c.*264C>T, NR_174459.1:n.1083C>T, NR_174460.1:n.1080C>T, XM_011511569.3:c.*264C>T, XM_011511569.2:c.*264C>T, XM_011511569.1:c.*264C>T, XM_011511570.2:c.*264C>T, XM_011511570.1:c.*264C>T, NM_001206879.1:c.*264C>T

                                    18.

                                    rs1476727406 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      2:218404983 (GRCh38)
                                      2:219269706 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:218404982:T:C,NC_000002.12:218404982:T:G
                                      Gene:
                                      CTDSP1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      HGVS:
                                      NC_000002.12:g.218404983T>C, NC_000002.12:g.218404983T>G, NC_000002.11:g.219269706T>C, NC_000002.11:g.219269706T>G, NG_030418.1:g.11646T>C, NG_030418.1:g.11646T>G, NM_021198.3:c.*558T>C, NM_021198.3:c.*558T>G, NM_021198.2:c.*558T>C, NM_021198.2:c.*558T>G, NM_182642.3:c.*558T>C, NM_182642.3:c.*558T>G, NM_182642.2:c.*558T>C, NM_182642.2:c.*558T>G, NM_001206878.2:c.*558T>C, NM_001206878.2:c.*558T>G, NM_001206878.1:c.*558T>C, NM_001206878.1:c.*558T>G, NM_001400268.1:c.*558T>C, NM_001400268.1:c.*558T>G, NR_174469.1:n.1752T>C, NR_174469.1:n.1752T>G, NR_174464.1:n.1697T>C, NR_174464.1:n.1697T>G, NR_174465.1:n.1665T>C, NR_174465.1:n.1665T>G, NR_174461.1:n.1662T>C, NR_174461.1:n.1662T>G, NM_001400271.1:c.*558T>C, NM_001400271.1:c.*558T>G, NR_174468.1:n.1557T>C, NR_174468.1:n.1557T>G, NR_174467.1:n.1556T>C, NR_174467.1:n.1556T>G, NM_001400272.1:c.*558T>C, NM_001400272.1:c.*558T>G, NM_001400274.1:c.*558T>C, NM_001400274.1:c.*558T>G, NM_001400275.1:c.*558T>C, NM_001400275.1:c.*558T>G, NM_001400276.1:c.*558T>C, NM_001400276.1:c.*558T>G, NR_174456.1:n.1441T>C, NR_174456.1:n.1441T>G, NR_174457.1:n.1438T>C, NR_174457.1:n.1438T>G, NR_174462.1:n.1434T>C, NR_174462.1:n.1434T>G, NR_174463.1:n.1431T>C, NR_174463.1:n.1431T>G, NR_174458.1:n.1415T>C, NR_174458.1:n.1415T>G, NR_174466.1:n.1403T>C, NR_174466.1:n.1403T>G, NM_001400273.1:c.*558T>C, NM_001400273.1:c.*558T>G, NR_174459.1:n.1377T>C, NR_174459.1:n.1377T>G, NR_174460.1:n.1374T>C, NR_174460.1:n.1374T>G, XM_011511569.3:c.*558T>C, XM_011511569.3:c.*558T>G, XM_011511569.2:c.*558T>C, XM_011511569.2:c.*558T>G, XM_011511569.1:c.*558T>C, XM_011511569.1:c.*558T>G, XM_011511570.2:c.*558T>C, XM_011511570.2:c.*558T>G, XM_011511570.1:c.*558T>C, XM_011511570.1:c.*558T>G

                                      19.

                                      rs1476365869 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:218403235 (GRCh38)
                                        2:219267958 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:218403234:G:A
                                        Gene:
                                        CTDSP1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.218403235G>A, NC_000002.11:g.219267958G>A, NG_030418.1:g.9898G>A, NM_021198.3:c.475G>A, NM_021198.2:c.475G>A, NM_182642.3:c.472G>A, NM_182642.2:c.472G>A, NM_001206878.2:c.472G>A, NM_001206878.1:c.472G>A, NM_001400268.1:c.472G>A, NR_174469.1:n.883G>A, NR_174464.1:n.828G>A, NR_174465.1:n.796G>A, NR_174461.1:n.793G>A, NM_001400271.1:c.499G>A, NR_174467.1:n.687G>A, NM_001400272.1:c.475G>A, NM_001400274.1:c.418G>A, NM_001400275.1:c.415G>A, NM_001400276.1:c.370G>A, NR_174456.1:n.572G>A, NR_174457.1:n.569G>A, NR_174462.1:n.565G>A, NR_174463.1:n.562G>A, NR_174458.1:n.546G>A, NR_174466.1:n.534G>A, NM_001400273.1:c.424G>A, NR_174459.1:n.508G>A, NR_174460.1:n.505G>A, NM_001400269.1:c.475G>A, NM_001400270.1:c.472G>A, XM_011511569.3:c.874G>A, XM_011511569.2:c.874G>A, XM_011511569.1:c.874G>A, XM_011511570.2:c.871G>A, XM_011511570.1:c.871G>A, NM_001206879.1:c.52G>A, NP_067021.1:p.Ala159Thr, NP_872580.1:p.Ala158Thr, NP_001193807.1:p.Ala158Thr, NP_001387197.1:p.Ala158Thr, NP_001387200.1:p.Ala167Thr, NP_001387201.1:p.Ala159Thr, NP_001387203.1:p.Ala140Thr, NP_001387204.1:p.Ala139Thr, NP_001387205.1:p.Ala124Thr, NP_001387202.1:p.Ala142Thr, NP_001387198.1:p.Ala159Thr, NP_001387199.1:p.Ala158Thr, XP_011509871.1:p.Ala292Thr, XP_011509872.1:p.Ala291Thr

                                        20.

                                        rs1476275963 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          2:218405907 (GRCh38)
                                          2:219270630 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:218405906:G:C
                                          Gene:
                                          CTDSP1 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000019/5 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.218405907G>C, NC_000002.11:g.219270630G>C, NG_030418.1:g.12570G>C, NM_021198.3:c.*1482G>C, NM_021198.2:c.*1482G>C, NM_182642.3:c.*1482G>C, NM_182642.2:c.*1482G>C, NM_001206878.2:c.*1482G>C, NM_001206878.1:c.*1482G>C, NM_001400268.1:c.*1482G>C, NR_174469.1:n.2676G>C, NR_174464.1:n.2621G>C, NR_174465.1:n.2589G>C, NR_174461.1:n.2586G>C, NM_001400271.1:c.*1482G>C, NR_174468.1:n.2481G>C, NR_174467.1:n.2480G>C, NM_001400272.1:c.*1482G>C, NM_001400274.1:c.*1482G>C, NM_001400275.1:c.*1482G>C, NM_001400276.1:c.*1482G>C, NR_174456.1:n.2365G>C, NR_174457.1:n.2362G>C, NR_174462.1:n.2358G>C, NR_174463.1:n.2355G>C, NR_174458.1:n.2339G>C, NR_174466.1:n.2327G>C, NM_001400273.1:c.*1482G>C, NR_174459.1:n.2301G>C, NR_174460.1:n.2298G>C, XM_011511569.3:c.*1482G>C, XM_011511569.2:c.*1482G>C, XM_011511569.1:c.*1482G>C, XM_011511570.2:c.*1482G>C, XM_011511570.1:c.*1482G>C

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