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Items: 1 to 20 of 584

1.

rs1489131866 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:147266059 (GRCh38)
    1:146737718 (GRCh37)
    Canonical SPDI:
    NC_000001.11:147266058:C:T
    Gene:
    CHD1L (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    T=0.000035/1 (TOMMO)
    HGVS:
    NC_000001.11:g.147266059C>T, NW_003871055.3:g.4081472C>T, NG_052905.1:g.97866C>T, NM_004284.6:c.867C>T, NM_004284.5:c.867C>T, NM_004284.4:c.867C>T, NM_024568.4:c.528C>T, NM_024568.3:c.528C>T, NM_024568.2:c.528C>T, NM_001256336.3:c.567C>T, NM_001256336.2:c.567C>T, NM_001256336.1:c.567C>T, NR_046070.3:n.887C>T, NR_046070.2:n.930C>T, NR_046070.1:n.930C>T, NM_001256337.3:c.24C>T, NM_001256337.2:c.24C>T, NM_001256337.1:c.24C>T, NM_001256338.3:c.255C>T, NM_001256338.2:c.255C>T, NM_001256338.1:c.255C>T, NM_001348451.2:c.651C>T, NM_001348451.1:c.651C>T, NR_145686.2:n.887C>T, NR_145686.1:n.930C>T, NR_145694.2:n.880C>T, NR_145694.1:n.923C>T, NM_001348462.2:c.24C>T, NM_001348462.1:c.24C>T, NM_001348455.2:c.378C>T, NM_001348455.1:c.378C>T, NR_145682.2:n.887C>T, NR_145682.1:n.930C>T, NR_145683.2:n.880C>T, NR_145683.1:n.923C>T, NM_001348465.2:c.24C>T, NM_001348465.1:c.24C>T, NM_001348458.2:c.24C>T, NM_001348458.1:c.24C>T, NM_001348452.2:c.651C>T, NM_001348452.1:c.651C>T, NM_001348453.2:c.528C>T, NM_001348453.1:c.528C>T, NM_001348457.2:c.24C>T, NM_001348457.1:c.24C>T, NR_145692.2:n.805C>T, NR_145692.1:n.848C>T, NR_145685.2:n.798C>T, NR_145685.1:n.841C>T, NM_001348460.2:c.24C>T, NM_001348460.1:c.24C>T, NR_145689.2:n.774C>T, NR_145689.1:n.817C>T, NR_145684.2:n.767C>T, NR_145684.1:n.810C>T, NM_001348464.2:c.24C>T, NM_001348464.1:c.24C>T, NR_145688.2:n.742C>T, NR_145688.1:n.785C>T, NM_001348459.2:c.24C>T, NM_001348459.1:c.24C>T, NR_145681.2:n.698C>T, NR_145681.1:n.741C>T, NR_145695.2:n.692C>T, NR_145695.1:n.735C>T, NM_001348461.2:c.24C>T, NM_001348461.1:c.24C>T, NR_145691.2:n.698C>T, NR_145691.1:n.741C>T, NM_001348463.2:c.24C>T, NM_001348463.1:c.24C>T, NM_001348466.2:c.24C>T, NM_001348466.1:c.24C>T, NM_001348456.2:c.24C>T, NM_001348456.1:c.24C>T, NM_001348454.2:c.411C>T, NM_001348454.1:c.411C>T, NR_145690.2:n.438C>T, NR_145690.1:n.481C>T, NR_145693.2:n.388C>T, NR_145693.1:n.431C>T, NC_000001.10:g.146737718C>T, XM_047435001.1:c.867C>T

    2.

    rs1484787300 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      G>- [Show Flanks]
      Chromosome:
      1:147276221 (GRCh38)
      1:146747885 (GRCh37)
      Canonical SPDI:
      NC_000001.11:147276220:GGG:GG
      Gene:
      CHD1L (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      GG=0./0 (ALFA)
      HGVS:
      NC_000001.11:g.147276223del, NW_003871055.3:g.4091636del, NG_052905.1:g.108030del, NM_004284.6:c.1505del, NM_004284.5:c.1505del, NM_004284.4:c.1505del, NM_024568.4:c.1166del, NM_024568.3:c.1166del, NM_024568.2:c.1166del, NM_001256336.3:c.1205del, NM_001256336.2:c.1205del, NM_001256336.1:c.1205del, NR_046070.3:n.1340del, NR_046070.2:n.1383del, NR_046070.1:n.1383del, NM_001256337.3:c.662del, NM_001256337.2:c.662del, NM_001256337.1:c.662del, NM_001256338.3:c.893del, NM_001256338.2:c.893del, NM_001256338.1:c.893del, NM_001348451.2:c.1289del, NM_001348451.1:c.1289del, NR_145686.2:n.1635del, NR_145686.1:n.1678del, NR_145694.2:n.1628del, NR_145694.1:n.1671del, NM_001348462.2:c.662del, NM_001348462.1:c.662del, NM_001348455.2:c.1016del, NM_001348455.1:c.1016del, NR_145682.2:n.1451del, NR_145682.1:n.1494del, NR_145683.2:n.1444del, NR_145683.1:n.1487del, NM_001348465.2:c.662del, NM_001348465.1:c.662del, NM_001348458.2:c.662del, NM_001348458.1:c.662del, NM_001348452.2:c.1289del, NM_001348452.1:c.1289del, NM_001348453.2:c.1166del, NM_001348453.1:c.1166del, NM_001348457.2:c.662del, NM_001348457.1:c.662del, NR_145692.2:n.1369del, NR_145692.1:n.1412del, NR_145685.2:n.1362del, NR_145685.1:n.1405del, NM_001348460.2:c.662del, NM_001348460.1:c.662del, NR_145689.2:n.1338del, NR_145689.1:n.1381del, NR_145684.2:n.1331del, NR_145684.1:n.1374del, NM_001348464.2:c.662del, NM_001348464.1:c.662del, NR_145688.2:n.1306del, NR_145688.1:n.1349del, NM_001348459.2:c.662del, NM_001348459.1:c.662del, NR_145681.2:n.1262del, NR_145681.1:n.1305del, NR_145695.2:n.1256del, NR_145695.1:n.1299del, NM_001348461.2:c.662del, NM_001348461.1:c.662del, NR_145691.2:n.1336del, NR_145691.1:n.1379del, NM_001348463.2:c.662del, NM_001348463.1:c.662del, NM_001348466.2:c.662del, NM_001348466.1:c.662del, NM_001348456.2:c.662del, NM_001348456.1:c.662del, NM_001348454.2:c.1049del, NM_001348454.1:c.1049del, NR_145690.2:n.1002del, NR_145690.1:n.1045del, NR_145693.2:n.952del, NR_145693.1:n.995del, NR_145687.2:n.572del, NR_145687.1:n.615del, NC_000001.10:g.146747887del, XM_024451051.2:c.224del, XM_024451051.1:c.224del, XM_047435001.1:c.1505del, NP_004275.4:p.Gly502fs, NP_078844.2:p.Gly389fs, NP_001243265.1:p.Gly402fs, NP_001243266.1:p.Gly221fs, NP_001243267.1:p.Gly298fs, NP_001335380.1:p.Gly430fs, NP_001335391.1:p.Gly221fs, NP_001335384.1:p.Gly339fs, NP_001335394.1:p.Gly221fs, NP_001335387.1:p.Gly221fs, NP_001335381.1:p.Gly430fs, NP_001335382.1:p.Gly389fs, NP_001335386.1:p.Gly221fs, NP_001335389.1:p.Gly221fs, NP_001335393.1:p.Gly221fs, NP_001335388.1:p.Gly221fs, NP_001335390.1:p.Gly221fs, NP_001335392.1:p.Gly221fs, NP_001335395.1:p.Gly221fs, NP_001335385.1:p.Gly221fs, NP_001335383.1:p.Gly350fs, XP_024306819.1:p.Gly75fs, XP_047290957.1:p.Gly502fs

      3.

      rs1484625953 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        1:147286403 (GRCh38)
        1:146758080 (GRCh37)
        Canonical SPDI:
        NC_000001.11:147286402:T:C
        Gene:
        CHD1L (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000001.11:g.147286403T>C, NW_003871055.3:g.4101816T>C, NG_052905.1:g.118210T>C, NM_004284.6:c.2124T>C, NM_004284.5:c.2124T>C, NM_004284.4:c.2124T>C, NM_024568.4:c.1785T>C, NM_024568.3:c.1785T>C, NM_024568.2:c.1785T>C, NM_001256336.3:c.1824T>C, NM_001256336.2:c.1824T>C, NM_001256336.1:c.1824T>C, NR_046070.3:n.1959T>C, NR_046070.2:n.2002T>C, NR_046070.1:n.2002T>C, NM_001256337.3:c.1281T>C, NM_001256337.2:c.1281T>C, NM_001256337.1:c.1281T>C, NM_001256338.3:c.1512T>C, NM_001256338.2:c.1512T>C, NM_001256338.1:c.1512T>C, NM_001348451.2:c.1908T>C, NM_001348451.1:c.1908T>C, NR_145686.2:n.2254T>C, NR_145686.1:n.2297T>C, NR_145694.2:n.2247T>C, NR_145694.1:n.2290T>C, NM_001348462.2:c.1281T>C, NM_001348462.1:c.1281T>C, NM_001348455.2:c.1635T>C, NM_001348455.1:c.1635T>C, NR_145682.2:n.2070T>C, NR_145682.1:n.2113T>C, NR_145683.2:n.2063T>C, NR_145683.1:n.2106T>C, NM_001348465.2:c.1281T>C, NM_001348465.1:c.1281T>C, NM_001348458.2:c.1281T>C, NM_001348458.1:c.1281T>C, NM_001348452.2:c.1908T>C, NM_001348452.1:c.1908T>C, NM_001348453.2:c.1785T>C, NM_001348453.1:c.1785T>C, NM_001348457.2:c.1281T>C, NM_001348457.1:c.1281T>C, NR_145692.2:n.1988T>C, NR_145692.1:n.2031T>C, NR_145685.2:n.1981T>C, NR_145685.1:n.2024T>C, NM_001348460.2:c.1281T>C, NM_001348460.1:c.1281T>C, NR_145689.2:n.1957T>C, NR_145689.1:n.2000T>C, NR_145684.2:n.1950T>C, NR_145684.1:n.1993T>C, NM_001348464.2:c.1281T>C, NM_001348464.1:c.1281T>C, NR_145688.2:n.1925T>C, NR_145688.1:n.1968T>C, NM_001348459.2:c.1281T>C, NM_001348459.1:c.1281T>C, NR_145681.2:n.1881T>C, NR_145681.1:n.1924T>C, NR_145695.2:n.1875T>C, NR_145695.1:n.1918T>C, NM_001348461.2:c.1281T>C, NM_001348461.1:c.1281T>C, NR_145691.2:n.1789T>C, NR_145691.1:n.1832T>C, NM_001348463.2:c.1281T>C, NM_001348463.1:c.1281T>C, NM_001348466.2:c.1281T>C, NM_001348466.1:c.1281T>C, NM_001348456.2:c.1281T>C, NM_001348456.1:c.1281T>C, NM_001348454.2:c.1668T>C, NM_001348454.1:c.1668T>C, NR_145690.2:n.1621T>C, NR_145690.1:n.1664T>C, NR_145693.2:n.1571T>C, NR_145693.1:n.1614T>C, NR_145687.2:n.1191T>C, NR_145687.1:n.1234T>C, NC_000001.10:g.146758080T>C, XM_024451051.2:c.843T>C, XM_024451051.1:c.843T>C

        4.

        rs1483297833 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          1:147287710 (GRCh38)
          1:146759389 (GRCh37)
          Canonical SPDI:
          NC_000001.11:147287705:ATATAT:ATAT
          Gene:
          CHD1L (Varview)
          Functional Consequence:
          non_coding_transcript_variant,stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          ATAT=0./0 (ALFA)
          -=0.000007/1 (GnomAD)
          -=0.000026/7 (TOPMED)
          HGVS:
          NC_000001.11:g.147287706AT[2], NW_003871055.3:g.4103119AT[2], NG_052905.1:g.119513AT[2], NM_004284.6:c.2297_2298del, NM_004284.5:c.2297_2298del, NM_004284.4:c.2297_2298del, NM_024568.4:c.1958_1959del, NM_024568.3:c.1958_1959del, NM_024568.2:c.1958_1959del, NM_001256336.3:c.1997_1998del, NM_001256336.2:c.1997_1998del, NM_001256336.1:c.1997_1998del, NR_046070.3:n.2128AT[2], NR_046070.2:n.2171AT[2], NR_046070.1:n.2171AT[2], NM_001256337.3:c.1454_1455del, NM_001256337.2:c.1454_1455del, NM_001256337.1:c.1454_1455del, NM_001256338.3:c.1685_1686del, NM_001256338.2:c.1685_1686del, NM_001256338.1:c.1685_1686del, NM_001348451.2:c.2081_2082del, NM_001348451.1:c.2081_2082del, NR_145686.2:n.2423AT[2], NR_145686.1:n.2466AT[2], NR_145694.2:n.2416AT[2], NR_145694.1:n.2459AT[2], NM_001348462.2:c.1454_1455del, NM_001348462.1:c.1454_1455del, NM_001348455.2:c.1808_1809del, NM_001348455.1:c.1808_1809del, NR_145682.2:n.2239AT[2], NR_145682.1:n.2282AT[2], NR_145683.2:n.2232AT[2], NR_145683.1:n.2275AT[2], NM_001348465.2:c.1454_1455del, NM_001348465.1:c.1454_1455del, NM_001348458.2:c.1454_1455del, NM_001348458.1:c.1454_1455del, NM_001348452.2:c.2081_2082del, NM_001348452.1:c.2081_2082del, NM_001348453.2:c.1958_1959del, NM_001348453.1:c.1958_1959del, NM_001348457.2:c.1454_1455del, NM_001348457.1:c.1454_1455del, NR_145692.2:n.2157AT[2], NR_145692.1:n.2200AT[2], NR_145685.2:n.2150AT[2], NR_145685.1:n.2193AT[2], NM_001348460.2:c.1454_1455del, NM_001348460.1:c.1454_1455del, NR_145689.2:n.2126AT[2], NR_145689.1:n.2169AT[2], NR_145684.2:n.2119AT[2], NR_145684.1:n.2162AT[2], NM_001348464.2:c.1454_1455del, NM_001348464.1:c.1454_1455del, NR_145688.2:n.2094AT[2], NR_145688.1:n.2137AT[2], NM_001348459.2:c.1454_1455del, NM_001348459.1:c.1454_1455del, NR_145681.2:n.2050AT[2], NR_145681.1:n.2093AT[2], NR_145695.2:n.2044AT[2], NR_145695.1:n.2087AT[2], NM_001348461.2:c.1454_1455del, NM_001348461.1:c.1454_1455del, NR_145691.2:n.1958AT[2], NR_145691.1:n.2001AT[2], NM_001348463.2:c.1454_1455del, NM_001348463.1:c.1454_1455del, NM_001348466.2:c.1454_1455del, NM_001348466.1:c.1454_1455del, NM_001348456.2:c.1454_1455del, NM_001348456.1:c.1454_1455del, NM_001348454.2:c.1841_1842del, NM_001348454.1:c.1841_1842del, NR_145690.2:n.1790AT[2], NR_145690.1:n.1833AT[2], NR_145693.2:n.1740AT[2], NR_145693.1:n.1783AT[2], NR_145687.2:n.1360AT[2], NR_145687.1:n.1403AT[2], NC_000001.10:g.146759385AT[2], XM_024451051.2:c.1016_1017del, XM_024451051.1:c.1016_1017del, NP_004275.4:p.Ile765_Tyr766insTer, NP_078844.2:p.Ile652_Tyr653insTer, NP_001243265.1:p.Ile665_Tyr666insTer, NP_001243266.1:p.Ile484_Tyr485insTer, NP_001243267.1:p.Ile561_Tyr562insTer, NP_001335380.1:p.Ile693_Tyr694insTer, NP_001335391.1:p.Ile484_Tyr485insTer, NP_001335384.1:p.Ile602_Tyr603insTer, NP_001335394.1:p.Ile484_Tyr485insTer, NP_001335387.1:p.Ile484_Tyr485insTer, NP_001335381.1:p.Ile693_Tyr694insTer, NP_001335382.1:p.Ile652_Tyr653insTer, NP_001335386.1:p.Ile484_Tyr485insTer, NP_001335389.1:p.Ile484_Tyr485insTer, NP_001335393.1:p.Ile484_Tyr485insTer, NP_001335388.1:p.Ile484_Tyr485insTer, NP_001335390.1:p.Ile484_Tyr485insTer, NP_001335392.1:p.Ile484_Tyr485insTer, NP_001335395.1:p.Ile484_Tyr485insTer, NP_001335385.1:p.Ile484_Tyr485insTer, NP_001335383.1:p.Ile613_Tyr614insTer, XP_024306819.1:p.Ile338_Tyr339insTer

          5.

          rs1471434499 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:147293684 (GRCh38)
            1:146765368 (GRCh37)
            Canonical SPDI:
            NC_000001.11:147293683:G:A
            Gene:
            CHD1L (Varview)
            Functional Consequence:
            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000011/3 (TOPMED)
            HGVS:
            NC_000001.11:g.147293684G>A, NW_003871055.3:g.4109097G>A, NG_052905.1:g.125491G>A, NM_004284.6:c.2468G>A, NM_004284.5:c.2468G>A, NM_004284.4:c.2468G>A, NM_024568.4:c.2129G>A, NM_024568.3:c.2129G>A, NM_024568.2:c.2129G>A, NM_001256336.3:c.2168G>A, NM_001256336.2:c.2168G>A, NM_001256336.1:c.2168G>A, NR_046070.3:n.2303G>A, NR_046070.2:n.2346G>A, NR_046070.1:n.2346G>A, NM_001256337.3:c.1625G>A, NM_001256337.2:c.1625G>A, NM_001256337.1:c.1625G>A, NM_001256338.3:c.1856G>A, NM_001256338.2:c.1856G>A, NM_001256338.1:c.1856G>A, NM_001348451.2:c.2252G>A, NM_001348451.1:c.2252G>A, NR_145686.2:n.2598G>A, NR_145686.1:n.2641G>A, NR_145694.2:n.2591G>A, NR_145694.1:n.2634G>A, NM_001348462.2:c.1625G>A, NM_001348462.1:c.1625G>A, NM_001348455.2:c.1979G>A, NM_001348455.1:c.1979G>A, NR_145682.2:n.2414G>A, NR_145682.1:n.2457G>A, NR_145683.2:n.2407G>A, NR_145683.1:n.2450G>A, NM_001348465.2:c.1625G>A, NM_001348465.1:c.1625G>A, NM_001348458.2:c.1625G>A, NM_001348458.1:c.1625G>A, NM_001348452.2:c.2252G>A, NM_001348452.1:c.2252G>A, NM_001348453.2:c.2129G>A, NM_001348453.1:c.2129G>A, NM_001348457.2:c.1625G>A, NM_001348457.1:c.1625G>A, NR_145692.2:n.2332G>A, NR_145692.1:n.2375G>A, NR_145685.2:n.2325G>A, NR_145685.1:n.2368G>A, NM_001348460.2:c.1625G>A, NM_001348460.1:c.1625G>A, NR_145689.2:n.2301G>A, NR_145689.1:n.2344G>A, NR_145684.2:n.2294G>A, NR_145684.1:n.2337G>A, NM_001348464.2:c.1625G>A, NM_001348464.1:c.1625G>A, NR_145688.2:n.2269G>A, NR_145688.1:n.2312G>A, NM_001348459.2:c.1625G>A, NM_001348459.1:c.1625G>A, NR_145681.2:n.2225G>A, NR_145681.1:n.2268G>A, NR_145695.2:n.2219G>A, NR_145695.1:n.2262G>A, NM_001348461.2:c.1625G>A, NM_001348461.1:c.1625G>A, NR_145691.2:n.2133G>A, NR_145691.1:n.2176G>A, NM_001348463.2:c.1625G>A, NM_001348463.1:c.1625G>A, NM_001348466.2:c.1625G>A, NM_001348466.1:c.1625G>A, NM_001348456.2:c.1625G>A, NM_001348456.1:c.1625G>A, NM_001348454.2:c.2012G>A, NM_001348454.1:c.2012G>A, NR_145690.2:n.1965G>A, NR_145690.1:n.2008G>A, NR_145693.2:n.1915G>A, NR_145693.1:n.1958G>A, NR_145687.2:n.1535G>A, NR_145687.1:n.1578G>A, NG_082178.1:g.1027G>A, NC_000001.10:g.146765368G>A, XM_024451051.2:c.1187G>A, XM_024451051.1:c.1187G>A, NP_004275.4:p.Gly823Asp, NP_078844.2:p.Gly710Asp, NP_001243265.1:p.Gly723Asp, NP_001243266.1:p.Gly542Asp, NP_001243267.1:p.Gly619Asp, NP_001335380.1:p.Gly751Asp, NP_001335391.1:p.Gly542Asp, NP_001335384.1:p.Gly660Asp, NP_001335394.1:p.Gly542Asp, NP_001335387.1:p.Gly542Asp, NP_001335381.1:p.Gly751Asp, NP_001335382.1:p.Gly710Asp, NP_001335386.1:p.Gly542Asp, NP_001335389.1:p.Gly542Asp, NP_001335393.1:p.Gly542Asp, NP_001335388.1:p.Gly542Asp, NP_001335390.1:p.Gly542Asp, NP_001335392.1:p.Gly542Asp, NP_001335395.1:p.Gly542Asp, NP_001335385.1:p.Gly542Asp, NP_001335383.1:p.Gly671Asp, XP_024306819.1:p.Gly396Asp

            6.

            rs1466245306 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,G [Show Flanks]
              Chromosome:
              1:147284391 (GRCh38)
              1:146756064 (GRCh37)
              Canonical SPDI:
              NC_000001.11:147284390:A:C,NC_000001.11:147284390:A:G
              Gene:
              CHD1L (Varview)
              Functional Consequence:
              synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000015/4 (TOPMED)
              HGVS:
              NC_000001.11:g.147284391A>C, NC_000001.11:g.147284391A>G, NW_003871055.3:g.4099804A>C, NW_003871055.3:g.4099804A>G, NG_052905.1:g.116198A>C, NG_052905.1:g.116198A>G, NM_004284.6:c.1746A>C, NM_004284.6:c.1746A>G, NM_004284.5:c.1746A>C, NM_004284.5:c.1746A>G, NM_004284.4:c.1746A>C, NM_004284.4:c.1746A>G, NM_024568.4:c.1407A>C, NM_024568.4:c.1407A>G, NM_024568.3:c.1407A>C, NM_024568.3:c.1407A>G, NM_024568.2:c.1407A>C, NM_024568.2:c.1407A>G, NM_001256336.3:c.1446A>C, NM_001256336.3:c.1446A>G, NM_001256336.2:c.1446A>C, NM_001256336.2:c.1446A>G, NM_001256336.1:c.1446A>C, NM_001256336.1:c.1446A>G, NR_046070.3:n.1581A>C, NR_046070.3:n.1581A>G, NR_046070.2:n.1624A>C, NR_046070.2:n.1624A>G, NR_046070.1:n.1624A>C, NR_046070.1:n.1624A>G, NM_001256337.3:c.903A>C, NM_001256337.3:c.903A>G, NM_001256337.2:c.903A>C, NM_001256337.2:c.903A>G, NM_001256337.1:c.903A>C, NM_001256337.1:c.903A>G, NM_001256338.3:c.1134A>C, NM_001256338.3:c.1134A>G, NM_001256338.2:c.1134A>C, NM_001256338.2:c.1134A>G, NM_001256338.1:c.1134A>C, NM_001256338.1:c.1134A>G, NM_001348451.2:c.1530A>C, NM_001348451.2:c.1530A>G, NM_001348451.1:c.1530A>C, NM_001348451.1:c.1530A>G, NR_145686.2:n.1876A>C, NR_145686.2:n.1876A>G, NR_145686.1:n.1919A>C, NR_145686.1:n.1919A>G, NR_145694.2:n.1869A>C, NR_145694.2:n.1869A>G, NR_145694.1:n.1912A>C, NR_145694.1:n.1912A>G, NM_001348462.2:c.903A>C, NM_001348462.2:c.903A>G, NM_001348462.1:c.903A>C, NM_001348462.1:c.903A>G, NM_001348455.2:c.1257A>C, NM_001348455.2:c.1257A>G, NM_001348455.1:c.1257A>C, NM_001348455.1:c.1257A>G, NR_145682.2:n.1692A>C, NR_145682.2:n.1692A>G, NR_145682.1:n.1735A>C, NR_145682.1:n.1735A>G, NR_145683.2:n.1685A>C, NR_145683.2:n.1685A>G, NR_145683.1:n.1728A>C, NR_145683.1:n.1728A>G, NM_001348465.2:c.903A>C, NM_001348465.2:c.903A>G, NM_001348465.1:c.903A>C, NM_001348465.1:c.903A>G, NM_001348458.2:c.903A>C, NM_001348458.2:c.903A>G, NM_001348458.1:c.903A>C, NM_001348458.1:c.903A>G, NM_001348452.2:c.1530A>C, NM_001348452.2:c.1530A>G, NM_001348452.1:c.1530A>C, NM_001348452.1:c.1530A>G, NM_001348453.2:c.1407A>C, NM_001348453.2:c.1407A>G, NM_001348453.1:c.1407A>C, NM_001348453.1:c.1407A>G, NM_001348457.2:c.903A>C, NM_001348457.2:c.903A>G, NM_001348457.1:c.903A>C, NM_001348457.1:c.903A>G, NR_145692.2:n.1610A>C, NR_145692.2:n.1610A>G, NR_145692.1:n.1653A>C, NR_145692.1:n.1653A>G, NR_145685.2:n.1603A>C, NR_145685.2:n.1603A>G, NR_145685.1:n.1646A>C, NR_145685.1:n.1646A>G, NM_001348460.2:c.903A>C, NM_001348460.2:c.903A>G, NM_001348460.1:c.903A>C, NM_001348460.1:c.903A>G, NR_145689.2:n.1579A>C, NR_145689.2:n.1579A>G, NR_145689.1:n.1622A>C, NR_145689.1:n.1622A>G, NR_145684.2:n.1572A>C, NR_145684.2:n.1572A>G, NR_145684.1:n.1615A>C, NR_145684.1:n.1615A>G, NM_001348464.2:c.903A>C, NM_001348464.2:c.903A>G, NM_001348464.1:c.903A>C, NM_001348464.1:c.903A>G, NR_145688.2:n.1547A>C, NR_145688.2:n.1547A>G, NR_145688.1:n.1590A>C, NR_145688.1:n.1590A>G, NM_001348459.2:c.903A>C, NM_001348459.2:c.903A>G, NM_001348459.1:c.903A>C, NM_001348459.1:c.903A>G, NR_145681.2:n.1503A>C, NR_145681.2:n.1503A>G, NR_145681.1:n.1546A>C, NR_145681.1:n.1546A>G, NR_145695.2:n.1497A>C, NR_145695.2:n.1497A>G, NR_145695.1:n.1540A>C, NR_145695.1:n.1540A>G, NM_001348461.2:c.903A>C, NM_001348461.2:c.903A>G, NM_001348461.1:c.903A>C, NM_001348461.1:c.903A>G, NR_145691.2:n.1411A>C, NR_145691.2:n.1411A>G, NR_145691.1:n.1454A>C, NR_145691.1:n.1454A>G, NM_001348463.2:c.903A>C, NM_001348463.2:c.903A>G, NM_001348463.1:c.903A>C, NM_001348463.1:c.903A>G, NM_001348466.2:c.903A>C, NM_001348466.2:c.903A>G, NM_001348466.1:c.903A>C, NM_001348466.1:c.903A>G, NM_001348456.2:c.903A>C, NM_001348456.2:c.903A>G, NM_001348456.1:c.903A>C, NM_001348456.1:c.903A>G, NM_001348454.2:c.1290A>C, NM_001348454.2:c.1290A>G, NM_001348454.1:c.1290A>C, NM_001348454.1:c.1290A>G, NR_145690.2:n.1243A>C, NR_145690.2:n.1243A>G, NR_145690.1:n.1286A>C, NR_145690.1:n.1286A>G, NR_145693.2:n.1193A>C, NR_145693.2:n.1193A>G, NR_145693.1:n.1236A>C, NR_145693.1:n.1236A>G, NR_145687.2:n.813A>C, NR_145687.2:n.813A>G, NR_145687.1:n.856A>C, NR_145687.1:n.856A>G, NC_000001.10:g.146756064A>C, NC_000001.10:g.146756064A>G, XM_024451051.2:c.465A>C, XM_024451051.2:c.465A>G, XM_024451051.1:c.465A>C, XM_024451051.1:c.465A>G, XM_047435001.1:c.1580A>C, XM_047435001.1:c.1580A>G, NP_004275.4:p.Lys582Asn, NP_078844.2:p.Lys469Asn, NP_001243265.1:p.Lys482Asn, NP_001243266.1:p.Lys301Asn, NP_001243267.1:p.Lys378Asn, NP_001335380.1:p.Lys510Asn, NP_001335391.1:p.Lys301Asn, NP_001335384.1:p.Lys419Asn, NP_001335394.1:p.Lys301Asn, NP_001335387.1:p.Lys301Asn, NP_001335381.1:p.Lys510Asn, NP_001335382.1:p.Lys469Asn, NP_001335386.1:p.Lys301Asn, NP_001335389.1:p.Lys301Asn, NP_001335393.1:p.Lys301Asn, NP_001335388.1:p.Lys301Asn, NP_001335390.1:p.Lys301Asn, NP_001335392.1:p.Lys301Asn, NP_001335395.1:p.Lys301Asn, NP_001335385.1:p.Lys301Asn, NP_001335383.1:p.Lys430Asn, XP_024306819.1:p.Lys155Asn, XP_047290957.1:p.Lys527Thr, XP_047290957.1:p.Lys527Arg

              7.

              rs1465492698 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:147295462 (GRCh38)
                1:146767143 (GRCh37)
                Canonical SPDI:
                NC_000001.11:147295461:C:T
                Gene:
                CHD1L (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000085/3 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000034/9 (TOPMED)
                HGVS:
                NC_000001.11:g.147295462C>T, NW_003871055.3:g.4110875C>T, NG_052905.1:g.127269C>T, NM_004284.6:c.2647C>T, NM_004284.5:c.2647C>T, NM_004284.4:c.2647C>T, NM_024568.4:c.2308C>T, NM_024568.3:c.2308C>T, NM_024568.2:c.2308C>T, NM_001256336.3:c.2347C>T, NM_001256336.2:c.2347C>T, NM_001256336.1:c.2347C>T, NR_046070.3:n.2482C>T, NR_046070.2:n.2525C>T, NR_046070.1:n.2525C>T, NM_001256337.3:c.1804C>T, NM_001256337.2:c.1804C>T, NM_001256337.1:c.1804C>T, NM_001256338.3:c.2035C>T, NM_001256338.2:c.2035C>T, NM_001256338.1:c.2035C>T, NM_001348451.2:c.2431C>T, NM_001348451.1:c.2431C>T, NR_145686.2:n.2777C>T, NR_145686.1:n.2820C>T, NR_145694.2:n.2770C>T, NR_145694.1:n.2813C>T, NM_001348462.2:c.1804C>T, NM_001348462.1:c.1804C>T, NM_001348455.2:c.2158C>T, NM_001348455.1:c.2158C>T, NR_145682.2:n.2593C>T, NR_145682.1:n.2636C>T, NR_145683.2:n.2586C>T, NR_145683.1:n.2629C>T, NM_001348465.2:c.1804C>T, NM_001348465.1:c.1804C>T, NM_001348458.2:c.1804C>T, NM_001348458.1:c.1804C>T, NM_001348452.2:c.2431C>T, NM_001348452.1:c.2431C>T, NM_001348453.2:c.2308C>T, NM_001348453.1:c.2308C>T, NM_001348457.2:c.1804C>T, NM_001348457.1:c.1804C>T, NR_145692.2:n.2511C>T, NR_145692.1:n.2554C>T, NR_145685.2:n.2504C>T, NR_145685.1:n.2547C>T, NM_001348460.2:c.1804C>T, NM_001348460.1:c.1804C>T, NR_145689.2:n.2480C>T, NR_145689.1:n.2523C>T, NR_145684.2:n.2473C>T, NR_145684.1:n.2516C>T, NM_001348464.2:c.1804C>T, NM_001348464.1:c.1804C>T, NR_145688.2:n.2448C>T, NR_145688.1:n.2491C>T, NM_001348459.2:c.1804C>T, NM_001348459.1:c.1804C>T, NR_145681.2:n.2404C>T, NR_145681.1:n.2447C>T, NR_145695.2:n.2398C>T, NR_145695.1:n.2441C>T, NM_001348461.2:c.1804C>T, NM_001348461.1:c.1804C>T, NR_145691.2:n.2312C>T, NR_145691.1:n.2355C>T, NM_001348463.2:c.1804C>T, NM_001348463.1:c.1804C>T, NM_001348466.2:c.1804C>T, NM_001348466.1:c.1804C>T, NM_001348456.2:c.1804C>T, NM_001348456.1:c.1804C>T, NM_001348454.2:c.2191C>T, NM_001348454.1:c.2191C>T, NR_145690.2:n.2144C>T, NR_145690.1:n.2187C>T, NR_145693.2:n.2094C>T, NR_145693.1:n.2137C>T, NR_145687.2:n.1714C>T, NR_145687.1:n.1757C>T, NC_000001.10:g.146767143C>T, XM_024451051.2:c.1366C>T, XM_024451051.1:c.1366C>T, NP_004275.4:p.Leu883Phe, NP_078844.2:p.Leu770Phe, NP_001243265.1:p.Leu783Phe, NP_001243266.1:p.Leu602Phe, NP_001243267.1:p.Leu679Phe, NP_001335380.1:p.Leu811Phe, NP_001335391.1:p.Leu602Phe, NP_001335384.1:p.Leu720Phe, NP_001335394.1:p.Leu602Phe, NP_001335387.1:p.Leu602Phe, NP_001335381.1:p.Leu811Phe, NP_001335382.1:p.Leu770Phe, NP_001335386.1:p.Leu602Phe, NP_001335389.1:p.Leu602Phe, NP_001335393.1:p.Leu602Phe, NP_001335388.1:p.Leu602Phe, NP_001335390.1:p.Leu602Phe, NP_001335392.1:p.Leu602Phe, NP_001335395.1:p.Leu602Phe, NP_001335385.1:p.Leu602Phe, NP_001335383.1:p.Leu731Phe, XP_024306819.1:p.Leu456Phe

                8.

                rs1461398222 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->A [Show Flanks]
                  Chromosome:
                  1:147276110 (GRCh38)
                  1:146747775 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:147276110:AAA:AAAA
                  Gene:
                  CHD1L (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAA=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.147276113dup, NW_003871055.3:g.4091526dup, NG_052905.1:g.107920dup, NM_004284.6:c.1395dup, NM_004284.5:c.1395dup, NM_004284.4:c.1395dup, NM_024568.4:c.1056dup, NM_024568.3:c.1056dup, NM_024568.2:c.1056dup, NM_001256336.3:c.1095dup, NM_001256336.2:c.1095dup, NM_001256336.1:c.1095dup, NR_046070.3:n.1230dup, NR_046070.2:n.1273dup, NR_046070.1:n.1273dup, NM_001256337.3:c.552dup, NM_001256337.2:c.552dup, NM_001256337.1:c.552dup, NM_001256338.3:c.783dup, NM_001256338.2:c.783dup, NM_001256338.1:c.783dup, NM_001348451.2:c.1179dup, NM_001348451.1:c.1179dup, NR_145686.2:n.1525dup, NR_145686.1:n.1568dup, NR_145694.2:n.1518dup, NR_145694.1:n.1561dup, NM_001348462.2:c.552dup, NM_001348462.1:c.552dup, NM_001348455.2:c.906dup, NM_001348455.1:c.906dup, NR_145682.2:n.1341dup, NR_145682.1:n.1384dup, NR_145683.2:n.1334dup, NR_145683.1:n.1377dup, NM_001348465.2:c.552dup, NM_001348465.1:c.552dup, NM_001348458.2:c.552dup, NM_001348458.1:c.552dup, NM_001348452.2:c.1179dup, NM_001348452.1:c.1179dup, NM_001348453.2:c.1056dup, NM_001348453.1:c.1056dup, NM_001348457.2:c.552dup, NM_001348457.1:c.552dup, NR_145692.2:n.1259dup, NR_145692.1:n.1302dup, NR_145685.2:n.1252dup, NR_145685.1:n.1295dup, NM_001348460.2:c.552dup, NM_001348460.1:c.552dup, NR_145689.2:n.1228dup, NR_145689.1:n.1271dup, NR_145684.2:n.1221dup, NR_145684.1:n.1264dup, NM_001348464.2:c.552dup, NM_001348464.1:c.552dup, NR_145688.2:n.1196dup, NR_145688.1:n.1239dup, NM_001348459.2:c.552dup, NM_001348459.1:c.552dup, NR_145681.2:n.1152dup, NR_145681.1:n.1195dup, NR_145695.2:n.1146dup, NR_145695.1:n.1189dup, NM_001348461.2:c.552dup, NM_001348461.1:c.552dup, NR_145691.2:n.1226dup, NR_145691.1:n.1269dup, NM_001348463.2:c.552dup, NM_001348463.1:c.552dup, NM_001348466.2:c.552dup, NM_001348466.1:c.552dup, NM_001348456.2:c.552dup, NM_001348456.1:c.552dup, NM_001348454.2:c.939dup, NM_001348454.1:c.939dup, NR_145690.2:n.892dup, NR_145690.1:n.935dup, NR_145693.2:n.842dup, NR_145693.1:n.885dup, NR_145687.2:n.462dup, NR_145687.1:n.505dup, NC_000001.10:g.146747777dup, XM_024451051.2:c.114dup, XM_024451051.1:c.114dup, XM_047435001.1:c.1395dup, NP_004275.4:p.Val466fs, NP_078844.2:p.Val353fs, NP_001243265.1:p.Val366fs, NP_001243266.1:p.Val185fs, NP_001243267.1:p.Val262fs, NP_001335380.1:p.Val394fs, NP_001335391.1:p.Val185fs, NP_001335384.1:p.Val303fs, NP_001335394.1:p.Val185fs, NP_001335387.1:p.Val185fs, NP_001335381.1:p.Val394fs, NP_001335382.1:p.Val353fs, NP_001335386.1:p.Val185fs, NP_001335389.1:p.Val185fs, NP_001335393.1:p.Val185fs, NP_001335388.1:p.Val185fs, NP_001335390.1:p.Val185fs, NP_001335392.1:p.Val185fs, NP_001335395.1:p.Val185fs, NP_001335385.1:p.Val185fs, NP_001335383.1:p.Val314fs, XP_024306819.1:p.Val39fs, XP_047290957.1:p.Val466fs

                  9.

                  rs1457760790 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:147275436 (GRCh38)
                    1:146747099 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:147275435:A:G
                    Gene:
                    CHD1L (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.147275436A>G, NW_003871055.3:g.4090849A>G, NG_052905.1:g.107243A>G, NM_004284.6:c.1353A>G, NM_004284.5:c.1353A>G, NM_004284.4:c.1353A>G, NM_024568.4:c.1014A>G, NM_024568.3:c.1014A>G, NM_024568.2:c.1014A>G, NM_001256336.3:c.1053A>G, NM_001256336.2:c.1053A>G, NM_001256336.1:c.1053A>G, NR_046070.3:n.1188A>G, NR_046070.2:n.1231A>G, NR_046070.1:n.1231A>G, NM_001256337.3:c.510A>G, NM_001256337.2:c.510A>G, NM_001256337.1:c.510A>G, NM_001256338.3:c.741A>G, NM_001256338.2:c.741A>G, NM_001256338.1:c.741A>G, NM_001348451.2:c.1137A>G, NM_001348451.1:c.1137A>G, NR_145686.2:n.1483A>G, NR_145686.1:n.1526A>G, NR_145694.2:n.1476A>G, NR_145694.1:n.1519A>G, NM_001348462.2:c.510A>G, NM_001348462.1:c.510A>G, NM_001348455.2:c.864A>G, NM_001348455.1:c.864A>G, NR_145682.2:n.1299A>G, NR_145682.1:n.1342A>G, NR_145683.2:n.1292A>G, NR_145683.1:n.1335A>G, NM_001348465.2:c.510A>G, NM_001348465.1:c.510A>G, NM_001348458.2:c.510A>G, NM_001348458.1:c.510A>G, NM_001348452.2:c.1137A>G, NM_001348452.1:c.1137A>G, NM_001348453.2:c.1014A>G, NM_001348453.1:c.1014A>G, NM_001348457.2:c.510A>G, NM_001348457.1:c.510A>G, NR_145692.2:n.1217A>G, NR_145692.1:n.1260A>G, NR_145685.2:n.1210A>G, NR_145685.1:n.1253A>G, NM_001348460.2:c.510A>G, NM_001348460.1:c.510A>G, NR_145689.2:n.1186A>G, NR_145689.1:n.1229A>G, NR_145684.2:n.1179A>G, NR_145684.1:n.1222A>G, NM_001348464.2:c.510A>G, NM_001348464.1:c.510A>G, NR_145688.2:n.1154A>G, NR_145688.1:n.1197A>G, NM_001348459.2:c.510A>G, NM_001348459.1:c.510A>G, NR_145681.2:n.1110A>G, NR_145681.1:n.1153A>G, NR_145695.2:n.1104A>G, NR_145695.1:n.1147A>G, NM_001348461.2:c.510A>G, NM_001348461.1:c.510A>G, NR_145691.2:n.1184A>G, NR_145691.1:n.1227A>G, NM_001348463.2:c.510A>G, NM_001348463.1:c.510A>G, NM_001348466.2:c.510A>G, NM_001348466.1:c.510A>G, NM_001348456.2:c.510A>G, NM_001348456.1:c.510A>G, NM_001348454.2:c.897A>G, NM_001348454.1:c.897A>G, NR_145690.2:n.850A>G, NR_145690.1:n.893A>G, NR_145693.2:n.800A>G, NR_145693.1:n.843A>G, NR_145687.2:n.420A>G, NR_145687.1:n.463A>G, NC_000001.10:g.146747099A>G, XM_024451051.2:c.72A>G, XM_024451051.1:c.72A>G, XM_047435001.1:c.1353A>G

                    10.

                    rs1457716456 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C,T [Show Flanks]
                      Chromosome:
                      1:147272200 (GRCh38)
                      1:146743861 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:147272199:G:C,NC_000001.11:147272199:G:T
                      Gene:
                      CHD1L (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0.000028/1 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.147272200G>C, NC_000001.11:g.147272200G>T, NW_003871055.3:g.4087613G>C, NW_003871055.3:g.4087613G>T, NG_052905.1:g.104007G>C, NG_052905.1:g.104007G>T, NM_004284.6:c.1189G>C, NM_004284.6:c.1189G>T, NM_004284.5:c.1189G>C, NM_004284.5:c.1189G>T, NM_004284.4:c.1189G>C, NM_004284.4:c.1189G>T, NM_024568.4:c.850G>C, NM_024568.4:c.850G>T, NM_024568.3:c.850G>C, NM_024568.3:c.850G>T, NM_024568.2:c.850G>C, NM_024568.2:c.850G>T, NM_001256336.3:c.889G>C, NM_001256336.3:c.889G>T, NM_001256336.2:c.889G>C, NM_001256336.2:c.889G>T, NM_001256336.1:c.889G>C, NM_001256336.1:c.889G>T, NM_001256337.3:c.346G>C, NM_001256337.3:c.346G>T, NM_001256337.2:c.346G>C, NM_001256337.2:c.346G>T, NM_001256337.1:c.346G>C, NM_001256337.1:c.346G>T, NM_001256338.3:c.577G>C, NM_001256338.3:c.577G>T, NM_001256338.2:c.577G>C, NM_001256338.2:c.577G>T, NM_001256338.1:c.577G>C, NM_001256338.1:c.577G>T, NM_001348451.2:c.973G>C, NM_001348451.2:c.973G>T, NM_001348451.1:c.973G>C, NM_001348451.1:c.973G>T, NR_145686.2:n.1135G>C, NR_145686.2:n.1135G>T, NR_145686.1:n.1178G>C, NR_145686.1:n.1178G>T, NR_145694.2:n.1128G>C, NR_145694.2:n.1128G>T, NR_145694.1:n.1171G>C, NR_145694.1:n.1171G>T, NM_001348462.2:c.346G>C, NM_001348462.2:c.346G>T, NM_001348462.1:c.346G>C, NM_001348462.1:c.346G>T, NM_001348455.2:c.700G>C, NM_001348455.2:c.700G>T, NM_001348455.1:c.700G>C, NM_001348455.1:c.700G>T, NR_145682.2:n.1135G>C, NR_145682.2:n.1135G>T, NR_145682.1:n.1178G>C, NR_145682.1:n.1178G>T, NR_145683.2:n.1128G>C, NR_145683.2:n.1128G>T, NR_145683.1:n.1171G>C, NR_145683.1:n.1171G>T, NM_001348465.2:c.346G>C, NM_001348465.2:c.346G>T, NM_001348465.1:c.346G>C, NM_001348465.1:c.346G>T, NM_001348458.2:c.346G>C, NM_001348458.2:c.346G>T, NM_001348458.1:c.346G>C, NM_001348458.1:c.346G>T, NM_001348452.2:c.973G>C, NM_001348452.2:c.973G>T, NM_001348452.1:c.973G>C, NM_001348452.1:c.973G>T, NM_001348453.2:c.850G>C, NM_001348453.2:c.850G>T, NM_001348453.1:c.850G>C, NM_001348453.1:c.850G>T, NM_001348457.2:c.346G>C, NM_001348457.2:c.346G>T, NM_001348457.1:c.346G>C, NM_001348457.1:c.346G>T, NR_145692.2:n.1053G>C, NR_145692.2:n.1053G>T, NR_145692.1:n.1096G>C, NR_145692.1:n.1096G>T, NR_145685.2:n.1046G>C, NR_145685.2:n.1046G>T, NR_145685.1:n.1089G>C, NR_145685.1:n.1089G>T, NM_001348460.2:c.346G>C, NM_001348460.2:c.346G>T, NM_001348460.1:c.346G>C, NM_001348460.1:c.346G>T, NR_145689.2:n.1022G>C, NR_145689.2:n.1022G>T, NR_145689.1:n.1065G>C, NR_145689.1:n.1065G>T, NR_145684.2:n.1015G>C, NR_145684.2:n.1015G>T, NR_145684.1:n.1058G>C, NR_145684.1:n.1058G>T, NM_001348464.2:c.346G>C, NM_001348464.2:c.346G>T, NM_001348464.1:c.346G>C, NM_001348464.1:c.346G>T, NR_145688.2:n.990G>C, NR_145688.2:n.990G>T, NR_145688.1:n.1033G>C, NR_145688.1:n.1033G>T, NM_001348459.2:c.346G>C, NM_001348459.2:c.346G>T, NM_001348459.1:c.346G>C, NM_001348459.1:c.346G>T, NR_145681.2:n.946G>C, NR_145681.2:n.946G>T, NR_145681.1:n.989G>C, NR_145681.1:n.989G>T, NR_145695.2:n.940G>C, NR_145695.2:n.940G>T, NR_145695.1:n.983G>C, NR_145695.1:n.983G>T, NM_001348461.2:c.346G>C, NM_001348461.2:c.346G>T, NM_001348461.1:c.346G>C, NM_001348461.1:c.346G>T, NR_145691.2:n.1020G>C, NR_145691.2:n.1020G>T, NR_145691.1:n.1063G>C, NR_145691.1:n.1063G>T, NM_001348463.2:c.346G>C, NM_001348463.2:c.346G>T, NM_001348463.1:c.346G>C, NM_001348463.1:c.346G>T, NM_001348466.2:c.346G>C, NM_001348466.2:c.346G>T, NM_001348466.1:c.346G>C, NM_001348466.1:c.346G>T, NM_001348456.2:c.346G>C, NM_001348456.2:c.346G>T, NM_001348456.1:c.346G>C, NM_001348456.1:c.346G>T, NM_001348454.2:c.733G>C, NM_001348454.2:c.733G>T, NM_001348454.1:c.733G>C, NM_001348454.1:c.733G>T, NR_145690.2:n.686G>C, NR_145690.2:n.686G>T, NR_145690.1:n.729G>C, NR_145690.1:n.729G>T, NR_145693.2:n.636G>C, NR_145693.2:n.636G>T, NR_145693.1:n.679G>C, NR_145693.1:n.679G>T, NC_000001.10:g.146743861G>C, NC_000001.10:g.146743861G>T, XM_047435001.1:c.1189G>C, XM_047435001.1:c.1189G>T, NP_004275.4:p.Val397Leu, NP_004275.4:p.Val397Leu, NP_078844.2:p.Val284Leu, NP_078844.2:p.Val284Leu, NP_001243265.1:p.Val297Leu, NP_001243265.1:p.Val297Leu, NP_001243266.1:p.Val116Leu, NP_001243266.1:p.Val116Leu, NP_001243267.1:p.Val193Leu, NP_001243267.1:p.Val193Leu, NP_001335380.1:p.Val325Leu, NP_001335380.1:p.Val325Leu, NP_001335391.1:p.Val116Leu, NP_001335391.1:p.Val116Leu, NP_001335384.1:p.Val234Leu, NP_001335384.1:p.Val234Leu, NP_001335394.1:p.Val116Leu, NP_001335394.1:p.Val116Leu, NP_001335387.1:p.Val116Leu, NP_001335387.1:p.Val116Leu, NP_001335381.1:p.Val325Leu, NP_001335381.1:p.Val325Leu, NP_001335382.1:p.Val284Leu, NP_001335382.1:p.Val284Leu, NP_001335386.1:p.Val116Leu, NP_001335386.1:p.Val116Leu, NP_001335389.1:p.Val116Leu, NP_001335389.1:p.Val116Leu, NP_001335393.1:p.Val116Leu, NP_001335393.1:p.Val116Leu, NP_001335388.1:p.Val116Leu, NP_001335388.1:p.Val116Leu, NP_001335390.1:p.Val116Leu, NP_001335390.1:p.Val116Leu, NP_001335392.1:p.Val116Leu, NP_001335392.1:p.Val116Leu, NP_001335395.1:p.Val116Leu, NP_001335395.1:p.Val116Leu, NP_001335385.1:p.Val116Leu, NP_001335385.1:p.Val116Leu, NP_001335383.1:p.Val245Leu, NP_001335383.1:p.Val245Leu, XP_047290957.1:p.Val397Leu, XP_047290957.1:p.Val397Leu

                      11.

                      rs1457266474 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:147291501 (GRCh38)
                        1:146763183 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:147291500:C:T
                        Gene:
                        CHD1L (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_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_000001.11:g.147291501C>T, NW_003871055.3:g.4106914C>T, NG_052905.1:g.123308C>T, NM_004284.6:c.2340C>T, NM_004284.5:c.2340C>T, NM_004284.4:c.2340C>T, NM_024568.4:c.2001C>T, NM_024568.3:c.2001C>T, NM_024568.2:c.2001C>T, NM_001256336.3:c.2040C>T, NM_001256336.2:c.2040C>T, NM_001256336.1:c.2040C>T, NR_046070.3:n.2175C>T, NR_046070.2:n.2218C>T, NR_046070.1:n.2218C>T, NM_001256337.3:c.1497C>T, NM_001256337.2:c.1497C>T, NM_001256337.1:c.1497C>T, NM_001256338.3:c.1728C>T, NM_001256338.2:c.1728C>T, NM_001256338.1:c.1728C>T, NM_001348451.2:c.2124C>T, NM_001348451.1:c.2124C>T, NR_145686.2:n.2470C>T, NR_145686.1:n.2513C>T, NR_145694.2:n.2463C>T, NR_145694.1:n.2506C>T, NM_001348462.2:c.1497C>T, NM_001348462.1:c.1497C>T, NM_001348455.2:c.1851C>T, NM_001348455.1:c.1851C>T, NR_145682.2:n.2286C>T, NR_145682.1:n.2329C>T, NR_145683.2:n.2279C>T, NR_145683.1:n.2322C>T, NM_001348465.2:c.1497C>T, NM_001348465.1:c.1497C>T, NM_001348458.2:c.1497C>T, NM_001348458.1:c.1497C>T, NM_001348452.2:c.2124C>T, NM_001348452.1:c.2124C>T, NM_001348453.2:c.2001C>T, NM_001348453.1:c.2001C>T, NM_001348457.2:c.1497C>T, NM_001348457.1:c.1497C>T, NR_145692.2:n.2204C>T, NR_145692.1:n.2247C>T, NR_145685.2:n.2197C>T, NR_145685.1:n.2240C>T, NM_001348460.2:c.1497C>T, NM_001348460.1:c.1497C>T, NR_145689.2:n.2173C>T, NR_145689.1:n.2216C>T, NR_145684.2:n.2166C>T, NR_145684.1:n.2209C>T, NM_001348464.2:c.1497C>T, NM_001348464.1:c.1497C>T, NR_145688.2:n.2141C>T, NR_145688.1:n.2184C>T, NM_001348459.2:c.1497C>T, NM_001348459.1:c.1497C>T, NR_145681.2:n.2097C>T, NR_145681.1:n.2140C>T, NR_145695.2:n.2091C>T, NR_145695.1:n.2134C>T, NM_001348461.2:c.1497C>T, NM_001348461.1:c.1497C>T, NR_145691.2:n.2005C>T, NR_145691.1:n.2048C>T, NM_001348463.2:c.1497C>T, NM_001348463.1:c.1497C>T, NM_001348466.2:c.1497C>T, NM_001348466.1:c.1497C>T, NM_001348456.2:c.1497C>T, NM_001348456.1:c.1497C>T, NM_001348454.2:c.1884C>T, NM_001348454.1:c.1884C>T, NR_145690.2:n.1837C>T, NR_145690.1:n.1880C>T, NR_145693.2:n.1787C>T, NR_145693.1:n.1830C>T, NR_145687.2:n.1407C>T, NR_145687.1:n.1450C>T, NC_000001.10:g.146763183C>T, XM_024451051.2:c.1059C>T, XM_024451051.1:c.1059C>T

                        12.

                        rs1452160882 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          1:147291492 (GRCh38)
                          1:146763174 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:147291491:G:A,NC_000001.11:147291491:G:C
                          Gene:
                          CHD1L (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000001.11:g.147291492G>A, NC_000001.11:g.147291492G>C, NW_003871055.3:g.4106905G>A, NW_003871055.3:g.4106905G>C, NG_052905.1:g.123299G>A, NG_052905.1:g.123299G>C, NM_004284.6:c.2331G>A, NM_004284.6:c.2331G>C, NM_004284.5:c.2331G>A, NM_004284.5:c.2331G>C, NM_004284.4:c.2331G>A, NM_004284.4:c.2331G>C, NM_024568.4:c.1992G>A, NM_024568.4:c.1992G>C, NM_024568.3:c.1992G>A, NM_024568.3:c.1992G>C, NM_024568.2:c.1992G>A, NM_024568.2:c.1992G>C, NM_001256336.3:c.2031G>A, NM_001256336.3:c.2031G>C, NM_001256336.2:c.2031G>A, NM_001256336.2:c.2031G>C, NM_001256336.1:c.2031G>A, NM_001256336.1:c.2031G>C, NR_046070.3:n.2166G>A, NR_046070.3:n.2166G>C, NR_046070.2:n.2209G>A, NR_046070.2:n.2209G>C, NR_046070.1:n.2209G>A, NR_046070.1:n.2209G>C, NM_001256337.3:c.1488G>A, NM_001256337.3:c.1488G>C, NM_001256337.2:c.1488G>A, NM_001256337.2:c.1488G>C, NM_001256337.1:c.1488G>A, NM_001256337.1:c.1488G>C, NM_001256338.3:c.1719G>A, NM_001256338.3:c.1719G>C, NM_001256338.2:c.1719G>A, NM_001256338.2:c.1719G>C, NM_001256338.1:c.1719G>A, NM_001256338.1:c.1719G>C, NM_001348451.2:c.2115G>A, NM_001348451.2:c.2115G>C, NM_001348451.1:c.2115G>A, NM_001348451.1:c.2115G>C, NR_145686.2:n.2461G>A, NR_145686.2:n.2461G>C, NR_145686.1:n.2504G>A, NR_145686.1:n.2504G>C, NR_145694.2:n.2454G>A, NR_145694.2:n.2454G>C, NR_145694.1:n.2497G>A, NR_145694.1:n.2497G>C, NM_001348462.2:c.1488G>A, NM_001348462.2:c.1488G>C, NM_001348462.1:c.1488G>A, NM_001348462.1:c.1488G>C, NM_001348455.2:c.1842G>A, NM_001348455.2:c.1842G>C, NM_001348455.1:c.1842G>A, NM_001348455.1:c.1842G>C, NR_145682.2:n.2277G>A, NR_145682.2:n.2277G>C, NR_145682.1:n.2320G>A, NR_145682.1:n.2320G>C, NR_145683.2:n.2270G>A, NR_145683.2:n.2270G>C, NR_145683.1:n.2313G>A, NR_145683.1:n.2313G>C, NM_001348465.2:c.1488G>A, NM_001348465.2:c.1488G>C, NM_001348465.1:c.1488G>A, NM_001348465.1:c.1488G>C, NM_001348458.2:c.1488G>A, NM_001348458.2:c.1488G>C, NM_001348458.1:c.1488G>A, NM_001348458.1:c.1488G>C, NM_001348452.2:c.2115G>A, NM_001348452.2:c.2115G>C, NM_001348452.1:c.2115G>A, NM_001348452.1:c.2115G>C, NM_001348453.2:c.1992G>A, NM_001348453.2:c.1992G>C, NM_001348453.1:c.1992G>A, NM_001348453.1:c.1992G>C, NM_001348457.2:c.1488G>A, NM_001348457.2:c.1488G>C, NM_001348457.1:c.1488G>A, NM_001348457.1:c.1488G>C, NR_145692.2:n.2195G>A, NR_145692.2:n.2195G>C, NR_145692.1:n.2238G>A, NR_145692.1:n.2238G>C, NR_145685.2:n.2188G>A, NR_145685.2:n.2188G>C, NR_145685.1:n.2231G>A, NR_145685.1:n.2231G>C, NM_001348460.2:c.1488G>A, NM_001348460.2:c.1488G>C, NM_001348460.1:c.1488G>A, NM_001348460.1:c.1488G>C, NR_145689.2:n.2164G>A, NR_145689.2:n.2164G>C, NR_145689.1:n.2207G>A, NR_145689.1:n.2207G>C, NR_145684.2:n.2157G>A, NR_145684.2:n.2157G>C, NR_145684.1:n.2200G>A, NR_145684.1:n.2200G>C, NM_001348464.2:c.1488G>A, NM_001348464.2:c.1488G>C, NM_001348464.1:c.1488G>A, NM_001348464.1:c.1488G>C, NR_145688.2:n.2132G>A, NR_145688.2:n.2132G>C, NR_145688.1:n.2175G>A, NR_145688.1:n.2175G>C, NM_001348459.2:c.1488G>A, NM_001348459.2:c.1488G>C, NM_001348459.1:c.1488G>A, NM_001348459.1:c.1488G>C, NR_145681.2:n.2088G>A, NR_145681.2:n.2088G>C, NR_145681.1:n.2131G>A, NR_145681.1:n.2131G>C, NR_145695.2:n.2082G>A, NR_145695.2:n.2082G>C, NR_145695.1:n.2125G>A, NR_145695.1:n.2125G>C, NM_001348461.2:c.1488G>A, NM_001348461.2:c.1488G>C, NM_001348461.1:c.1488G>A, NM_001348461.1:c.1488G>C, NR_145691.2:n.1996G>A, NR_145691.2:n.1996G>C, NR_145691.1:n.2039G>A, NR_145691.1:n.2039G>C, NM_001348463.2:c.1488G>A, NM_001348463.2:c.1488G>C, NM_001348463.1:c.1488G>A, NM_001348463.1:c.1488G>C, NM_001348466.2:c.1488G>A, NM_001348466.2:c.1488G>C, NM_001348466.1:c.1488G>A, NM_001348466.1:c.1488G>C, NM_001348456.2:c.1488G>A, NM_001348456.2:c.1488G>C, NM_001348456.1:c.1488G>A, NM_001348456.1:c.1488G>C, NM_001348454.2:c.1875G>A, NM_001348454.2:c.1875G>C, NM_001348454.1:c.1875G>A, NM_001348454.1:c.1875G>C, NR_145690.2:n.1828G>A, NR_145690.2:n.1828G>C, NR_145690.1:n.1871G>A, NR_145690.1:n.1871G>C, NR_145693.2:n.1778G>A, NR_145693.2:n.1778G>C, NR_145693.1:n.1821G>A, NR_145693.1:n.1821G>C, NR_145687.2:n.1398G>A, NR_145687.2:n.1398G>C, NR_145687.1:n.1441G>A, NR_145687.1:n.1441G>C, NC_000001.10:g.146763174G>A, NC_000001.10:g.146763174G>C, XM_024451051.2:c.1050G>A, XM_024451051.2:c.1050G>C, XM_024451051.1:c.1050G>A, XM_024451051.1:c.1050G>C, NP_004275.4:p.Leu777Phe, NP_078844.2:p.Leu664Phe, NP_001243265.1:p.Leu677Phe, NP_001243266.1:p.Leu496Phe, NP_001243267.1:p.Leu573Phe, NP_001335380.1:p.Leu705Phe, NP_001335391.1:p.Leu496Phe, NP_001335384.1:p.Leu614Phe, NP_001335394.1:p.Leu496Phe, NP_001335387.1:p.Leu496Phe, NP_001335381.1:p.Leu705Phe, NP_001335382.1:p.Leu664Phe, NP_001335386.1:p.Leu496Phe, NP_001335389.1:p.Leu496Phe, NP_001335393.1:p.Leu496Phe, NP_001335388.1:p.Leu496Phe, NP_001335390.1:p.Leu496Phe, NP_001335392.1:p.Leu496Phe, NP_001335395.1:p.Leu496Phe, NP_001335385.1:p.Leu496Phe, NP_001335383.1:p.Leu625Phe, XP_024306819.1:p.Leu350Phe

                          13.

                          rs1450119199 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:147272279 (GRCh38)
                            1:146743940 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:147272278:C:T
                            Gene:
                            CHD1L (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.147272279C>T, NW_003871055.3:g.4087692C>T, NG_052905.1:g.104086C>T, NM_004284.6:c.1268C>T, NM_004284.5:c.1268C>T, NM_004284.4:c.1268C>T, NM_024568.4:c.929C>T, NM_024568.3:c.929C>T, NM_024568.2:c.929C>T, NM_001256336.3:c.968C>T, NM_001256336.2:c.968C>T, NM_001256336.1:c.968C>T, NM_001256337.3:c.425C>T, NM_001256337.2:c.425C>T, NM_001256337.1:c.425C>T, NM_001256338.3:c.656C>T, NM_001256338.2:c.656C>T, NM_001256338.1:c.656C>T, NM_001348451.2:c.1052C>T, NM_001348451.1:c.1052C>T, NR_145686.2:n.1214C>T, NR_145686.1:n.1257C>T, NR_145694.2:n.1207C>T, NR_145694.1:n.1250C>T, NM_001348462.2:c.425C>T, NM_001348462.1:c.425C>T, NM_001348455.2:c.779C>T, NM_001348455.1:c.779C>T, NR_145682.2:n.1214C>T, NR_145682.1:n.1257C>T, NR_145683.2:n.1207C>T, NR_145683.1:n.1250C>T, NM_001348465.2:c.425C>T, NM_001348465.1:c.425C>T, NM_001348458.2:c.425C>T, NM_001348458.1:c.425C>T, NM_001348452.2:c.1052C>T, NM_001348452.1:c.1052C>T, NM_001348453.2:c.929C>T, NM_001348453.1:c.929C>T, NM_001348457.2:c.425C>T, NM_001348457.1:c.425C>T, NR_145692.2:n.1132C>T, NR_145692.1:n.1175C>T, NR_145685.2:n.1125C>T, NR_145685.1:n.1168C>T, NM_001348460.2:c.425C>T, NM_001348460.1:c.425C>T, NR_145689.2:n.1101C>T, NR_145689.1:n.1144C>T, NR_145684.2:n.1094C>T, NR_145684.1:n.1137C>T, NM_001348464.2:c.425C>T, NM_001348464.1:c.425C>T, NR_145688.2:n.1069C>T, NR_145688.1:n.1112C>T, NM_001348459.2:c.425C>T, NM_001348459.1:c.425C>T, NR_145681.2:n.1025C>T, NR_145681.1:n.1068C>T, NR_145695.2:n.1019C>T, NR_145695.1:n.1062C>T, NM_001348461.2:c.425C>T, NM_001348461.1:c.425C>T, NR_145691.2:n.1099C>T, NR_145691.1:n.1142C>T, NM_001348463.2:c.425C>T, NM_001348463.1:c.425C>T, NM_001348466.2:c.425C>T, NM_001348466.1:c.425C>T, NM_001348456.2:c.425C>T, NM_001348456.1:c.425C>T, NM_001348454.2:c.812C>T, NM_001348454.1:c.812C>T, NR_145690.2:n.765C>T, NR_145690.1:n.808C>T, NR_145693.2:n.715C>T, NR_145693.1:n.758C>T, NC_000001.10:g.146743940C>T, XM_047435001.1:c.1268C>T, NP_004275.4:p.Ala423Val, NP_078844.2:p.Ala310Val, NP_001243265.1:p.Ala323Val, NP_001243266.1:p.Ala142Val, NP_001243267.1:p.Ala219Val, NP_001335380.1:p.Ala351Val, NP_001335391.1:p.Ala142Val, NP_001335384.1:p.Ala260Val, NP_001335394.1:p.Ala142Val, NP_001335387.1:p.Ala142Val, NP_001335381.1:p.Ala351Val, NP_001335382.1:p.Ala310Val, NP_001335386.1:p.Ala142Val, NP_001335389.1:p.Ala142Val, NP_001335393.1:p.Ala142Val, NP_001335388.1:p.Ala142Val, NP_001335390.1:p.Ala142Val, NP_001335392.1:p.Ala142Val, NP_001335395.1:p.Ala142Val, NP_001335385.1:p.Ala142Val, NP_001335383.1:p.Ala271Val, XP_047290957.1:p.Ala423Val

                            14.

                            rs1449356648 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C,T [Show Flanks]
                              Chromosome:
                              1:147291548 (GRCh38)
                              1:146763230 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:147291547:A:C,NC_000001.11:147291547:A:T
                              Gene:
                              CHD1L (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              HGVS:
                              NC_000001.11:g.147291548A>C, NC_000001.11:g.147291548A>T, NW_003871055.3:g.4106961A>C, NW_003871055.3:g.4106961A>T, NG_052905.1:g.123355A>C, NG_052905.1:g.123355A>T, NM_004284.6:c.2387A>C, NM_004284.6:c.2387A>T, NM_004284.5:c.2387A>C, NM_004284.5:c.2387A>T, NM_004284.4:c.2387A>C, NM_004284.4:c.2387A>T, NM_024568.4:c.2048A>C, NM_024568.4:c.2048A>T, NM_024568.3:c.2048A>C, NM_024568.3:c.2048A>T, NM_024568.2:c.2048A>C, NM_024568.2:c.2048A>T, NM_001256336.3:c.2087A>C, NM_001256336.3:c.2087A>T, NM_001256336.2:c.2087A>C, NM_001256336.2:c.2087A>T, NM_001256336.1:c.2087A>C, NM_001256336.1:c.2087A>T, NR_046070.3:n.2222A>C, NR_046070.3:n.2222A>T, NR_046070.2:n.2265A>C, NR_046070.2:n.2265A>T, NR_046070.1:n.2265A>C, NR_046070.1:n.2265A>T, NM_001256337.3:c.1544A>C, NM_001256337.3:c.1544A>T, NM_001256337.2:c.1544A>C, NM_001256337.2:c.1544A>T, NM_001256337.1:c.1544A>C, NM_001256337.1:c.1544A>T, NM_001256338.3:c.1775A>C, NM_001256338.3:c.1775A>T, NM_001256338.2:c.1775A>C, NM_001256338.2:c.1775A>T, NM_001256338.1:c.1775A>C, NM_001256338.1:c.1775A>T, NM_001348451.2:c.2171A>C, NM_001348451.2:c.2171A>T, NM_001348451.1:c.2171A>C, NM_001348451.1:c.2171A>T, NR_145686.2:n.2517A>C, NR_145686.2:n.2517A>T, NR_145686.1:n.2560A>C, NR_145686.1:n.2560A>T, NR_145694.2:n.2510A>C, NR_145694.2:n.2510A>T, NR_145694.1:n.2553A>C, NR_145694.1:n.2553A>T, NM_001348462.2:c.1544A>C, NM_001348462.2:c.1544A>T, NM_001348462.1:c.1544A>C, NM_001348462.1:c.1544A>T, NM_001348455.2:c.1898A>C, NM_001348455.2:c.1898A>T, NM_001348455.1:c.1898A>C, NM_001348455.1:c.1898A>T, NR_145682.2:n.2333A>C, NR_145682.2:n.2333A>T, NR_145682.1:n.2376A>C, NR_145682.1:n.2376A>T, NR_145683.2:n.2326A>C, NR_145683.2:n.2326A>T, NR_145683.1:n.2369A>C, NR_145683.1:n.2369A>T, NM_001348465.2:c.1544A>C, NM_001348465.2:c.1544A>T, NM_001348465.1:c.1544A>C, NM_001348465.1:c.1544A>T, NM_001348458.2:c.1544A>C, NM_001348458.2:c.1544A>T, NM_001348458.1:c.1544A>C, NM_001348458.1:c.1544A>T, NM_001348452.2:c.2171A>C, NM_001348452.2:c.2171A>T, NM_001348452.1:c.2171A>C, NM_001348452.1:c.2171A>T, NM_001348453.2:c.2048A>C, NM_001348453.2:c.2048A>T, NM_001348453.1:c.2048A>C, NM_001348453.1:c.2048A>T, NM_001348457.2:c.1544A>C, NM_001348457.2:c.1544A>T, NM_001348457.1:c.1544A>C, NM_001348457.1:c.1544A>T, NR_145692.2:n.2251A>C, NR_145692.2:n.2251A>T, NR_145692.1:n.2294A>C, NR_145692.1:n.2294A>T, NR_145685.2:n.2244A>C, NR_145685.2:n.2244A>T, NR_145685.1:n.2287A>C, NR_145685.1:n.2287A>T, NM_001348460.2:c.1544A>C, NM_001348460.2:c.1544A>T, NM_001348460.1:c.1544A>C, NM_001348460.1:c.1544A>T, NR_145689.2:n.2220A>C, NR_145689.2:n.2220A>T, NR_145689.1:n.2263A>C, NR_145689.1:n.2263A>T, NR_145684.2:n.2213A>C, NR_145684.2:n.2213A>T, NR_145684.1:n.2256A>C, NR_145684.1:n.2256A>T, NM_001348464.2:c.1544A>C, NM_001348464.2:c.1544A>T, NM_001348464.1:c.1544A>C, NM_001348464.1:c.1544A>T, NR_145688.2:n.2188A>C, NR_145688.2:n.2188A>T, NR_145688.1:n.2231A>C, NR_145688.1:n.2231A>T, NM_001348459.2:c.1544A>C, NM_001348459.2:c.1544A>T, NM_001348459.1:c.1544A>C, NM_001348459.1:c.1544A>T, NR_145681.2:n.2144A>C, NR_145681.2:n.2144A>T, NR_145681.1:n.2187A>C, NR_145681.1:n.2187A>T, NR_145695.2:n.2138A>C, NR_145695.2:n.2138A>T, NR_145695.1:n.2181A>C, NR_145695.1:n.2181A>T, NM_001348461.2:c.1544A>C, NM_001348461.2:c.1544A>T, NM_001348461.1:c.1544A>C, NM_001348461.1:c.1544A>T, NR_145691.2:n.2052A>C, NR_145691.2:n.2052A>T, NR_145691.1:n.2095A>C, NR_145691.1:n.2095A>T, NM_001348463.2:c.1544A>C, NM_001348463.2:c.1544A>T, NM_001348463.1:c.1544A>C, NM_001348463.1:c.1544A>T, NM_001348466.2:c.1544A>C, NM_001348466.2:c.1544A>T, NM_001348466.1:c.1544A>C, NM_001348466.1:c.1544A>T, NM_001348456.2:c.1544A>C, NM_001348456.2:c.1544A>T, NM_001348456.1:c.1544A>C, NM_001348456.1:c.1544A>T, NM_001348454.2:c.1931A>C, NM_001348454.2:c.1931A>T, NM_001348454.1:c.1931A>C, NM_001348454.1:c.1931A>T, NR_145690.2:n.1884A>C, NR_145690.2:n.1884A>T, NR_145690.1:n.1927A>C, NR_145690.1:n.1927A>T, NR_145693.2:n.1834A>C, NR_145693.2:n.1834A>T, NR_145693.1:n.1877A>C, NR_145693.1:n.1877A>T, NR_145687.2:n.1454A>C, NR_145687.2:n.1454A>T, NR_145687.1:n.1497A>C, NR_145687.1:n.1497A>T, NC_000001.10:g.146763230A>C, NC_000001.10:g.146763230A>T, XM_024451051.2:c.1106A>C, XM_024451051.2:c.1106A>T, XM_024451051.1:c.1106A>C, XM_024451051.1:c.1106A>T, NP_004275.4:p.Asp796Ala, NP_004275.4:p.Asp796Val, NP_078844.2:p.Asp683Ala, NP_078844.2:p.Asp683Val, NP_001243265.1:p.Asp696Ala, NP_001243265.1:p.Asp696Val, NP_001243266.1:p.Asp515Ala, NP_001243266.1:p.Asp515Val, NP_001243267.1:p.Asp592Ala, NP_001243267.1:p.Asp592Val, NP_001335380.1:p.Asp724Ala, NP_001335380.1:p.Asp724Val, NP_001335391.1:p.Asp515Ala, NP_001335391.1:p.Asp515Val, NP_001335384.1:p.Asp633Ala, NP_001335384.1:p.Asp633Val, NP_001335394.1:p.Asp515Ala, NP_001335394.1:p.Asp515Val, NP_001335387.1:p.Asp515Ala, NP_001335387.1:p.Asp515Val, NP_001335381.1:p.Asp724Ala, NP_001335381.1:p.Asp724Val, NP_001335382.1:p.Asp683Ala, NP_001335382.1:p.Asp683Val, NP_001335386.1:p.Asp515Ala, NP_001335386.1:p.Asp515Val, NP_001335389.1:p.Asp515Ala, NP_001335389.1:p.Asp515Val, NP_001335393.1:p.Asp515Ala, NP_001335393.1:p.Asp515Val, NP_001335388.1:p.Asp515Ala, NP_001335388.1:p.Asp515Val, NP_001335390.1:p.Asp515Ala, NP_001335390.1:p.Asp515Val, NP_001335392.1:p.Asp515Ala, NP_001335392.1:p.Asp515Val, NP_001335395.1:p.Asp515Ala, NP_001335395.1:p.Asp515Val, NP_001335385.1:p.Asp515Ala, NP_001335385.1:p.Asp515Val, NP_001335383.1:p.Asp644Ala, NP_001335383.1:p.Asp644Val, XP_024306819.1:p.Asp369Ala, XP_024306819.1:p.Asp369Val

                              15.

                              rs1444498992 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:147276178 (GRCh38)
                                1:146747842 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:147276177:T:G
                                Gene:
                                CHD1L (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.147276178T>G, NW_003871055.3:g.4091591T>G, NG_052905.1:g.107985T>G, NM_004284.6:c.1460T>G, NM_004284.5:c.1460T>G, NM_004284.4:c.1460T>G, NM_024568.4:c.1121T>G, NM_024568.3:c.1121T>G, NM_024568.2:c.1121T>G, NM_001256336.3:c.1160T>G, NM_001256336.2:c.1160T>G, NM_001256336.1:c.1160T>G, NR_046070.3:n.1295T>G, NR_046070.2:n.1338T>G, NR_046070.1:n.1338T>G, NM_001256337.3:c.617T>G, NM_001256337.2:c.617T>G, NM_001256337.1:c.617T>G, NM_001256338.3:c.848T>G, NM_001256338.2:c.848T>G, NM_001256338.1:c.848T>G, NM_001348451.2:c.1244T>G, NM_001348451.1:c.1244T>G, NR_145686.2:n.1590T>G, NR_145686.1:n.1633T>G, NR_145694.2:n.1583T>G, NR_145694.1:n.1626T>G, NM_001348462.2:c.617T>G, NM_001348462.1:c.617T>G, NM_001348455.2:c.971T>G, NM_001348455.1:c.971T>G, NR_145682.2:n.1406T>G, NR_145682.1:n.1449T>G, NR_145683.2:n.1399T>G, NR_145683.1:n.1442T>G, NM_001348465.2:c.617T>G, NM_001348465.1:c.617T>G, NM_001348458.2:c.617T>G, NM_001348458.1:c.617T>G, NM_001348452.2:c.1244T>G, NM_001348452.1:c.1244T>G, NM_001348453.2:c.1121T>G, NM_001348453.1:c.1121T>G, NM_001348457.2:c.617T>G, NM_001348457.1:c.617T>G, NR_145692.2:n.1324T>G, NR_145692.1:n.1367T>G, NR_145685.2:n.1317T>G, NR_145685.1:n.1360T>G, NM_001348460.2:c.617T>G, NM_001348460.1:c.617T>G, NR_145689.2:n.1293T>G, NR_145689.1:n.1336T>G, NR_145684.2:n.1286T>G, NR_145684.1:n.1329T>G, NM_001348464.2:c.617T>G, NM_001348464.1:c.617T>G, NR_145688.2:n.1261T>G, NR_145688.1:n.1304T>G, NM_001348459.2:c.617T>G, NM_001348459.1:c.617T>G, NR_145681.2:n.1217T>G, NR_145681.1:n.1260T>G, NR_145695.2:n.1211T>G, NR_145695.1:n.1254T>G, NM_001348461.2:c.617T>G, NM_001348461.1:c.617T>G, NR_145691.2:n.1291T>G, NR_145691.1:n.1334T>G, NM_001348463.2:c.617T>G, NM_001348463.1:c.617T>G, NM_001348466.2:c.617T>G, NM_001348466.1:c.617T>G, NM_001348456.2:c.617T>G, NM_001348456.1:c.617T>G, NM_001348454.2:c.1004T>G, NM_001348454.1:c.1004T>G, NR_145690.2:n.957T>G, NR_145690.1:n.1000T>G, NR_145693.2:n.907T>G, NR_145693.1:n.950T>G, NR_145687.2:n.527T>G, NR_145687.1:n.570T>G, NC_000001.10:g.146747842T>G, XM_024451051.2:c.179T>G, XM_024451051.1:c.179T>G, XM_047435001.1:c.1460T>G, NP_004275.4:p.Leu487Arg, NP_078844.2:p.Leu374Arg, NP_001243265.1:p.Leu387Arg, NP_001243266.1:p.Leu206Arg, NP_001243267.1:p.Leu283Arg, NP_001335380.1:p.Leu415Arg, NP_001335391.1:p.Leu206Arg, NP_001335384.1:p.Leu324Arg, NP_001335394.1:p.Leu206Arg, NP_001335387.1:p.Leu206Arg, NP_001335381.1:p.Leu415Arg, NP_001335382.1:p.Leu374Arg, NP_001335386.1:p.Leu206Arg, NP_001335389.1:p.Leu206Arg, NP_001335393.1:p.Leu206Arg, NP_001335388.1:p.Leu206Arg, NP_001335390.1:p.Leu206Arg, NP_001335392.1:p.Leu206Arg, NP_001335395.1:p.Leu206Arg, NP_001335385.1:p.Leu206Arg, NP_001335383.1:p.Leu335Arg, XP_024306819.1:p.Leu60Arg, XP_047290957.1:p.Leu487Arg

                                16.

                                rs1443935605 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  1:147286396 (GRCh38)
                                  1:146758073 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:147286395:A:G
                                  Gene:
                                  CHD1L (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000021/3 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.147286396A>G, NW_003871055.3:g.4101809A>G, NG_052905.1:g.118203A>G, NM_004284.6:c.2117A>G, NM_004284.5:c.2117A>G, NM_004284.4:c.2117A>G, NM_024568.4:c.1778A>G, NM_024568.3:c.1778A>G, NM_024568.2:c.1778A>G, NM_001256336.3:c.1817A>G, NM_001256336.2:c.1817A>G, NM_001256336.1:c.1817A>G, NR_046070.3:n.1952A>G, NR_046070.2:n.1995A>G, NR_046070.1:n.1995A>G, NM_001256337.3:c.1274A>G, NM_001256337.2:c.1274A>G, NM_001256337.1:c.1274A>G, NM_001256338.3:c.1505A>G, NM_001256338.2:c.1505A>G, NM_001256338.1:c.1505A>G, NM_001348451.2:c.1901A>G, NM_001348451.1:c.1901A>G, NR_145686.2:n.2247A>G, NR_145686.1:n.2290A>G, NR_145694.2:n.2240A>G, NR_145694.1:n.2283A>G, NM_001348462.2:c.1274A>G, NM_001348462.1:c.1274A>G, NM_001348455.2:c.1628A>G, NM_001348455.1:c.1628A>G, NR_145682.2:n.2063A>G, NR_145682.1:n.2106A>G, NR_145683.2:n.2056A>G, NR_145683.1:n.2099A>G, NM_001348465.2:c.1274A>G, NM_001348465.1:c.1274A>G, NM_001348458.2:c.1274A>G, NM_001348458.1:c.1274A>G, NM_001348452.2:c.1901A>G, NM_001348452.1:c.1901A>G, NM_001348453.2:c.1778A>G, NM_001348453.1:c.1778A>G, NM_001348457.2:c.1274A>G, NM_001348457.1:c.1274A>G, NR_145692.2:n.1981A>G, NR_145692.1:n.2024A>G, NR_145685.2:n.1974A>G, NR_145685.1:n.2017A>G, NM_001348460.2:c.1274A>G, NM_001348460.1:c.1274A>G, NR_145689.2:n.1950A>G, NR_145689.1:n.1993A>G, NR_145684.2:n.1943A>G, NR_145684.1:n.1986A>G, NM_001348464.2:c.1274A>G, NM_001348464.1:c.1274A>G, NR_145688.2:n.1918A>G, NR_145688.1:n.1961A>G, NM_001348459.2:c.1274A>G, NM_001348459.1:c.1274A>G, NR_145681.2:n.1874A>G, NR_145681.1:n.1917A>G, NR_145695.2:n.1868A>G, NR_145695.1:n.1911A>G, NM_001348461.2:c.1274A>G, NM_001348461.1:c.1274A>G, NR_145691.2:n.1782A>G, NR_145691.1:n.1825A>G, NM_001348463.2:c.1274A>G, NM_001348463.1:c.1274A>G, NM_001348466.2:c.1274A>G, NM_001348466.1:c.1274A>G, NM_001348456.2:c.1274A>G, NM_001348456.1:c.1274A>G, NM_001348454.2:c.1661A>G, NM_001348454.1:c.1661A>G, NR_145690.2:n.1614A>G, NR_145690.1:n.1657A>G, NR_145693.2:n.1564A>G, NR_145693.1:n.1607A>G, NR_145687.2:n.1184A>G, NR_145687.1:n.1227A>G, NC_000001.10:g.146758073A>G, XM_024451051.2:c.836A>G, XM_024451051.1:c.836A>G, NP_004275.4:p.Glu706Gly, NP_078844.2:p.Glu593Gly, NP_001243265.1:p.Glu606Gly, NP_001243266.1:p.Glu425Gly, NP_001243267.1:p.Glu502Gly, NP_001335380.1:p.Glu634Gly, NP_001335391.1:p.Glu425Gly, NP_001335384.1:p.Glu543Gly, NP_001335394.1:p.Glu425Gly, NP_001335387.1:p.Glu425Gly, NP_001335381.1:p.Glu634Gly, NP_001335382.1:p.Glu593Gly, NP_001335386.1:p.Glu425Gly, NP_001335389.1:p.Glu425Gly, NP_001335393.1:p.Glu425Gly, NP_001335388.1:p.Glu425Gly, NP_001335390.1:p.Glu425Gly, NP_001335392.1:p.Glu425Gly, NP_001335395.1:p.Glu425Gly, NP_001335385.1:p.Glu425Gly, NP_001335383.1:p.Glu554Gly, XP_024306819.1:p.Glu279Gly

                                  17.

                                  rs1443709118 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:147272216 (GRCh38)
                                    1:146743877 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:147272215:G:A
                                    Gene:
                                    CHD1L (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.147272216G>A, NW_003871055.3:g.4087629G>A, NG_052905.1:g.104023G>A, NM_004284.6:c.1205G>A, NM_004284.5:c.1205G>A, NM_004284.4:c.1205G>A, NM_024568.4:c.866G>A, NM_024568.3:c.866G>A, NM_024568.2:c.866G>A, NM_001256336.3:c.905G>A, NM_001256336.2:c.905G>A, NM_001256336.1:c.905G>A, NM_001256337.3:c.362G>A, NM_001256337.2:c.362G>A, NM_001256337.1:c.362G>A, NM_001256338.3:c.593G>A, NM_001256338.2:c.593G>A, NM_001256338.1:c.593G>A, NM_001348451.2:c.989G>A, NM_001348451.1:c.989G>A, NR_145686.2:n.1151G>A, NR_145686.1:n.1194G>A, NR_145694.2:n.1144G>A, NR_145694.1:n.1187G>A, NM_001348462.2:c.362G>A, NM_001348462.1:c.362G>A, NM_001348455.2:c.716G>A, NM_001348455.1:c.716G>A, NR_145682.2:n.1151G>A, NR_145682.1:n.1194G>A, NR_145683.2:n.1144G>A, NR_145683.1:n.1187G>A, NM_001348465.2:c.362G>A, NM_001348465.1:c.362G>A, NM_001348458.2:c.362G>A, NM_001348458.1:c.362G>A, NM_001348452.2:c.989G>A, NM_001348452.1:c.989G>A, NM_001348453.2:c.866G>A, NM_001348453.1:c.866G>A, NM_001348457.2:c.362G>A, NM_001348457.1:c.362G>A, NR_145692.2:n.1069G>A, NR_145692.1:n.1112G>A, NR_145685.2:n.1062G>A, NR_145685.1:n.1105G>A, NM_001348460.2:c.362G>A, NM_001348460.1:c.362G>A, NR_145689.2:n.1038G>A, NR_145689.1:n.1081G>A, NR_145684.2:n.1031G>A, NR_145684.1:n.1074G>A, NM_001348464.2:c.362G>A, NM_001348464.1:c.362G>A, NR_145688.2:n.1006G>A, NR_145688.1:n.1049G>A, NM_001348459.2:c.362G>A, NM_001348459.1:c.362G>A, NR_145681.2:n.962G>A, NR_145681.1:n.1005G>A, NR_145695.2:n.956G>A, NR_145695.1:n.999G>A, NM_001348461.2:c.362G>A, NM_001348461.1:c.362G>A, NR_145691.2:n.1036G>A, NR_145691.1:n.1079G>A, NM_001348463.2:c.362G>A, NM_001348463.1:c.362G>A, NM_001348466.2:c.362G>A, NM_001348466.1:c.362G>A, NM_001348456.2:c.362G>A, NM_001348456.1:c.362G>A, NM_001348454.2:c.749G>A, NM_001348454.1:c.749G>A, NR_145690.2:n.702G>A, NR_145690.1:n.745G>A, NR_145693.2:n.652G>A, NR_145693.1:n.695G>A, NC_000001.10:g.146743877G>A, XM_047435001.1:c.1205G>A, NP_004275.4:p.Arg402Lys, NP_078844.2:p.Arg289Lys, NP_001243265.1:p.Arg302Lys, NP_001243266.1:p.Arg121Lys, NP_001243267.1:p.Arg198Lys, NP_001335380.1:p.Arg330Lys, NP_001335391.1:p.Arg121Lys, NP_001335384.1:p.Arg239Lys, NP_001335394.1:p.Arg121Lys, NP_001335387.1:p.Arg121Lys, NP_001335381.1:p.Arg330Lys, NP_001335382.1:p.Arg289Lys, NP_001335386.1:p.Arg121Lys, NP_001335389.1:p.Arg121Lys, NP_001335393.1:p.Arg121Lys, NP_001335388.1:p.Arg121Lys, NP_001335390.1:p.Arg121Lys, NP_001335392.1:p.Arg121Lys, NP_001335395.1:p.Arg121Lys, NP_001335385.1:p.Arg121Lys, NP_001335383.1:p.Arg250Lys, XP_047290957.1:p.Arg402Lys

                                    18.

                                    rs1443036471 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:147291514 (GRCh38)
                                      1:146763196 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:147291513:G:A
                                      Gene:
                                      CHD1L (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.147291514G>A, NW_003871055.3:g.4106927G>A, NG_052905.1:g.123321G>A, NM_004284.6:c.2353G>A, NM_004284.5:c.2353G>A, NM_004284.4:c.2353G>A, NM_024568.4:c.2014G>A, NM_024568.3:c.2014G>A, NM_024568.2:c.2014G>A, NM_001256336.3:c.2053G>A, NM_001256336.2:c.2053G>A, NM_001256336.1:c.2053G>A, NR_046070.3:n.2188G>A, NR_046070.2:n.2231G>A, NR_046070.1:n.2231G>A, NM_001256337.3:c.1510G>A, NM_001256337.2:c.1510G>A, NM_001256337.1:c.1510G>A, NM_001256338.3:c.1741G>A, NM_001256338.2:c.1741G>A, NM_001256338.1:c.1741G>A, NM_001348451.2:c.2137G>A, NM_001348451.1:c.2137G>A, NR_145686.2:n.2483G>A, NR_145686.1:n.2526G>A, NR_145694.2:n.2476G>A, NR_145694.1:n.2519G>A, NM_001348462.2:c.1510G>A, NM_001348462.1:c.1510G>A, NM_001348455.2:c.1864G>A, NM_001348455.1:c.1864G>A, NR_145682.2:n.2299G>A, NR_145682.1:n.2342G>A, NR_145683.2:n.2292G>A, NR_145683.1:n.2335G>A, NM_001348465.2:c.1510G>A, NM_001348465.1:c.1510G>A, NM_001348458.2:c.1510G>A, NM_001348458.1:c.1510G>A, NM_001348452.2:c.2137G>A, NM_001348452.1:c.2137G>A, NM_001348453.2:c.2014G>A, NM_001348453.1:c.2014G>A, NM_001348457.2:c.1510G>A, NM_001348457.1:c.1510G>A, NR_145692.2:n.2217G>A, NR_145692.1:n.2260G>A, NR_145685.2:n.2210G>A, NR_145685.1:n.2253G>A, NM_001348460.2:c.1510G>A, NM_001348460.1:c.1510G>A, NR_145689.2:n.2186G>A, NR_145689.1:n.2229G>A, NR_145684.2:n.2179G>A, NR_145684.1:n.2222G>A, NM_001348464.2:c.1510G>A, NM_001348464.1:c.1510G>A, NR_145688.2:n.2154G>A, NR_145688.1:n.2197G>A, NM_001348459.2:c.1510G>A, NM_001348459.1:c.1510G>A, NR_145681.2:n.2110G>A, NR_145681.1:n.2153G>A, NR_145695.2:n.2104G>A, NR_145695.1:n.2147G>A, NM_001348461.2:c.1510G>A, NM_001348461.1:c.1510G>A, NR_145691.2:n.2018G>A, NR_145691.1:n.2061G>A, NM_001348463.2:c.1510G>A, NM_001348463.1:c.1510G>A, NM_001348466.2:c.1510G>A, NM_001348466.1:c.1510G>A, NM_001348456.2:c.1510G>A, NM_001348456.1:c.1510G>A, NM_001348454.2:c.1897G>A, NM_001348454.1:c.1897G>A, NR_145690.2:n.1850G>A, NR_145690.1:n.1893G>A, NR_145693.2:n.1800G>A, NR_145693.1:n.1843G>A, NR_145687.2:n.1420G>A, NR_145687.1:n.1463G>A, NC_000001.10:g.146763196G>A, XM_024451051.2:c.1072G>A, XM_024451051.1:c.1072G>A, NP_004275.4:p.Val785Ile, NP_078844.2:p.Val672Ile, NP_001243265.1:p.Val685Ile, NP_001243266.1:p.Val504Ile, NP_001243267.1:p.Val581Ile, NP_001335380.1:p.Val713Ile, NP_001335391.1:p.Val504Ile, NP_001335384.1:p.Val622Ile, NP_001335394.1:p.Val504Ile, NP_001335387.1:p.Val504Ile, NP_001335381.1:p.Val713Ile, NP_001335382.1:p.Val672Ile, NP_001335386.1:p.Val504Ile, NP_001335389.1:p.Val504Ile, NP_001335393.1:p.Val504Ile, NP_001335388.1:p.Val504Ile, NP_001335390.1:p.Val504Ile, NP_001335392.1:p.Val504Ile, NP_001335395.1:p.Val504Ile, NP_001335385.1:p.Val504Ile, NP_001335383.1:p.Val633Ile, XP_024306819.1:p.Val358Ile

                                      19.

                                      rs1442168377 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:147280136 (GRCh38)
                                        1:146751809 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:147280135:G:A
                                        Gene:
                                        CHD1L (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.147280136G>A, NW_003871055.3:g.4095549G>A, NG_052905.1:g.111943G>A, NM_004284.6:c.1650G>A, NM_004284.5:c.1650G>A, NM_004284.4:c.1650G>A, NM_024568.4:c.1311G>A, NM_024568.3:c.1311G>A, NM_024568.2:c.1311G>A, NM_001256336.3:c.1350G>A, NM_001256336.2:c.1350G>A, NM_001256336.1:c.1350G>A, NR_046070.3:n.1485G>A, NR_046070.2:n.1528G>A, NR_046070.1:n.1528G>A, NM_001256337.3:c.807G>A, NM_001256337.2:c.807G>A, NM_001256337.1:c.807G>A, NM_001256338.3:c.1038G>A, NM_001256338.2:c.1038G>A, NM_001256338.1:c.1038G>A, NM_001348451.2:c.1434G>A, NM_001348451.1:c.1434G>A, NR_145686.2:n.1780G>A, NR_145686.1:n.1823G>A, NR_145694.2:n.1773G>A, NR_145694.1:n.1816G>A, NM_001348462.2:c.807G>A, NM_001348462.1:c.807G>A, NM_001348455.2:c.1161G>A, NM_001348455.1:c.1161G>A, NR_145682.2:n.1596G>A, NR_145682.1:n.1639G>A, NR_145683.2:n.1589G>A, NR_145683.1:n.1632G>A, NM_001348465.2:c.807G>A, NM_001348465.1:c.807G>A, NM_001348458.2:c.807G>A, NM_001348458.1:c.807G>A, NM_001348452.2:c.1434G>A, NM_001348452.1:c.1434G>A, NM_001348453.2:c.1311G>A, NM_001348453.1:c.1311G>A, NM_001348457.2:c.807G>A, NM_001348457.1:c.807G>A, NR_145692.2:n.1514G>A, NR_145692.1:n.1557G>A, NR_145685.2:n.1507G>A, NR_145685.1:n.1550G>A, NM_001348460.2:c.807G>A, NM_001348460.1:c.807G>A, NR_145689.2:n.1483G>A, NR_145689.1:n.1526G>A, NR_145684.2:n.1476G>A, NR_145684.1:n.1519G>A, NM_001348464.2:c.807G>A, NM_001348464.1:c.807G>A, NR_145688.2:n.1451G>A, NR_145688.1:n.1494G>A, NM_001348459.2:c.807G>A, NM_001348459.1:c.807G>A, NR_145681.2:n.1407G>A, NR_145681.1:n.1450G>A, NR_145695.2:n.1401G>A, NR_145695.1:n.1444G>A, NM_001348461.2:c.807G>A, NM_001348461.1:c.807G>A, NM_001348463.2:c.807G>A, NM_001348463.1:c.807G>A, NM_001348466.2:c.807G>A, NM_001348466.1:c.807G>A, NM_001348456.2:c.807G>A, NM_001348456.1:c.807G>A, NM_001348454.2:c.1194G>A, NM_001348454.1:c.1194G>A, NR_145690.2:n.1147G>A, NR_145690.1:n.1190G>A, NR_145693.2:n.1097G>A, NR_145693.1:n.1140G>A, NR_145687.2:n.717G>A, NR_145687.1:n.760G>A, NC_000001.10:g.146751809G>A, XM_024451051.2:c.369G>A, XM_024451051.1:c.369G>A, NP_004275.4:p.Trp550Ter, NP_078844.2:p.Trp437Ter, NP_001243265.1:p.Trp450Ter, NP_001243266.1:p.Trp269Ter, NP_001243267.1:p.Trp346Ter, NP_001335380.1:p.Trp478Ter, NP_001335391.1:p.Trp269Ter, NP_001335384.1:p.Trp387Ter, NP_001335394.1:p.Trp269Ter, NP_001335387.1:p.Trp269Ter, NP_001335381.1:p.Trp478Ter, NP_001335382.1:p.Trp437Ter, NP_001335386.1:p.Trp269Ter, NP_001335389.1:p.Trp269Ter, NP_001335393.1:p.Trp269Ter, NP_001335388.1:p.Trp269Ter, NP_001335390.1:p.Trp269Ter, NP_001335392.1:p.Trp269Ter, NP_001335395.1:p.Trp269Ter, NP_001335385.1:p.Trp269Ter, NP_001335383.1:p.Trp398Ter, XP_024306819.1:p.Trp123Ter

                                        20.

                                        rs1437131416 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          1:147275387 (GRCh38)
                                          1:146747050 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:147275386:C:G
                                          Gene:
                                          CHD1L (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0./0 (ALFA)
                                          HGVS:
                                          NC_000001.11:g.147275387C>G, NW_003871055.3:g.4090800C>G, NG_052905.1:g.107194C>G, NM_004284.6:c.1304C>G, NM_004284.5:c.1304C>G, NM_004284.4:c.1304C>G, NM_024568.4:c.965C>G, NM_024568.3:c.965C>G, NM_024568.2:c.965C>G, NM_001256336.3:c.1004C>G, NM_001256336.2:c.1004C>G, NM_001256336.1:c.1004C>G, NR_046070.3:n.1139C>G, NR_046070.2:n.1182C>G, NR_046070.1:n.1182C>G, NM_001256337.3:c.461C>G, NM_001256337.2:c.461C>G, NM_001256337.1:c.461C>G, NM_001256338.3:c.692C>G, NM_001256338.2:c.692C>G, NM_001256338.1:c.692C>G, NM_001348451.2:c.1088C>G, NM_001348451.1:c.1088C>G, NR_145686.2:n.1434C>G, NR_145686.1:n.1477C>G, NR_145694.2:n.1427C>G, NR_145694.1:n.1470C>G, NM_001348462.2:c.461C>G, NM_001348462.1:c.461C>G, NM_001348455.2:c.815C>G, NM_001348455.1:c.815C>G, NR_145682.2:n.1250C>G, NR_145682.1:n.1293C>G, NR_145683.2:n.1243C>G, NR_145683.1:n.1286C>G, NM_001348465.2:c.461C>G, NM_001348465.1:c.461C>G, NM_001348458.2:c.461C>G, NM_001348458.1:c.461C>G, NM_001348452.2:c.1088C>G, NM_001348452.1:c.1088C>G, NM_001348453.2:c.965C>G, NM_001348453.1:c.965C>G, NM_001348457.2:c.461C>G, NM_001348457.1:c.461C>G, NR_145692.2:n.1168C>G, NR_145692.1:n.1211C>G, NR_145685.2:n.1161C>G, NR_145685.1:n.1204C>G, NM_001348460.2:c.461C>G, NM_001348460.1:c.461C>G, NR_145689.2:n.1137C>G, NR_145689.1:n.1180C>G, NR_145684.2:n.1130C>G, NR_145684.1:n.1173C>G, NM_001348464.2:c.461C>G, NM_001348464.1:c.461C>G, NR_145688.2:n.1105C>G, NR_145688.1:n.1148C>G, NM_001348459.2:c.461C>G, NM_001348459.1:c.461C>G, NR_145681.2:n.1061C>G, NR_145681.1:n.1104C>G, NR_145695.2:n.1055C>G, NR_145695.1:n.1098C>G, NM_001348461.2:c.461C>G, NM_001348461.1:c.461C>G, NR_145691.2:n.1135C>G, NR_145691.1:n.1178C>G, NM_001348463.2:c.461C>G, NM_001348463.1:c.461C>G, NM_001348466.2:c.461C>G, NM_001348466.1:c.461C>G, NM_001348456.2:c.461C>G, NM_001348456.1:c.461C>G, NM_001348454.2:c.848C>G, NM_001348454.1:c.848C>G, NR_145690.2:n.801C>G, NR_145690.1:n.844C>G, NR_145693.2:n.751C>G, NR_145693.1:n.794C>G, NR_145687.2:n.371C>G, NR_145687.1:n.414C>G, NC_000001.10:g.146747050C>G, XM_024451051.2:c.23C>G, XM_024451051.1:c.23C>G, XM_047435001.1:c.1304C>G, NP_004275.4:p.Thr435Ser, NP_078844.2:p.Thr322Ser, NP_001243265.1:p.Thr335Ser, NP_001243266.1:p.Thr154Ser, NP_001243267.1:p.Thr231Ser, NP_001335380.1:p.Thr363Ser, NP_001335391.1:p.Thr154Ser, NP_001335384.1:p.Thr272Ser, NP_001335394.1:p.Thr154Ser, NP_001335387.1:p.Thr154Ser, NP_001335381.1:p.Thr363Ser, NP_001335382.1:p.Thr322Ser, NP_001335386.1:p.Thr154Ser, NP_001335389.1:p.Thr154Ser, NP_001335393.1:p.Thr154Ser, NP_001335388.1:p.Thr154Ser, NP_001335390.1:p.Thr154Ser, NP_001335392.1:p.Thr154Ser, NP_001335395.1:p.Thr154Ser, NP_001335385.1:p.Thr154Ser, NP_001335383.1:p.Thr283Ser, XP_024306819.1:p.Thr8Ser, XP_047290957.1:p.Thr435Ser

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