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Items: 1 to 20 of 1180

1.

rs1489963240 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AG>- [Show Flanks]
    Chromosome:
    9:89359575 (GRCh38)
    9:91974490 (GRCh37)
    Canonical SPDI:
    NC_000009.12:89359572:AGAG:AG
    Gene:
    SECISBP2 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AGAG=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    -=0.000007/1 (GnomAD)
    HGVS:
    NC_000009.12:g.89359573AG[1], NC_000009.11:g.91974488AG[1], NG_012177.1:g.46077AG[1], NM_024077.5:c.*749AG[1], NM_024077.4:c.*749AG[1], NM_024077.3:c.*749AG[1], NM_001282688.2:c.*749AG[1], NM_001282688.1:c.*749AG[1], NM_001354702.2:c.*749AG[1], NM_001354702.1:c.*749AG[1], NM_001354697.2:c.*749AG[1], NM_001354697.1:c.*749AG[1], NM_001354696.2:c.*749AG[1], NM_001354696.1:c.*749AG[1], NM_001282689.2:c.*749AG[1], NM_001282689.1:c.*749AG[1], NM_001354698.2:c.*749AG[1], NM_001354698.1:c.*749AG[1], NM_001282690.1:c.*749AG[1], XM_017015122.3:c.*749AG[1], XM_017015122.2:c.*749AG[1], XM_017015122.1:c.*749AG[1], XM_011519001.2:c.*749AG[1], XM_011519001.1:c.*749AG[1], XM_011519002.2:c.*749AG[1], XM_011519002.1:c.*749AG[1], XM_011519003.2:c.*749AG[1], XM_011519003.1:c.*749AG[1], XM_024447666.2:c.*749AG[1], XM_024447666.1:c.*749AG[1], XM_024447667.2:c.*749AG[1], XM_024447667.1:c.*749AG[1], XM_047423858.1:c.*749AG[1], XM_047423861.1:c.*749AG[1], XM_047423862.1:c.*749AG[1], XM_047423863.1:c.*749AG[1]

    2.

    rs1488922165 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      9:89349783 (GRCh38)
      9:91964698 (GRCh37)
      Canonical SPDI:
      NC_000009.12:89349782:G:C
      Gene:
      SECISBP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.89349783G>C, NC_000009.11:g.91964698G>C, NG_012177.1:g.36287G>C, NM_024077.5:c.1746G>C, NM_024077.4:c.1746G>C, NM_024077.3:c.1746G>C, NM_001282688.2:c.1743G>C, NM_001282688.1:c.1743G>C, NM_001354702.2:c.861G>C, NM_001354702.1:c.861G>C, NM_001354697.2:c.1632G>C, NM_001354697.1:c.1632G>C, NM_001354696.2:c.1629G>C, NM_001354696.1:c.1629G>C, NM_001282689.2:c.1527G>C, NM_001282689.1:c.1527G>C, NM_001354698.2:c.1539G>C, NM_001354698.1:c.1539G>C, NM_001282690.1:c.1542G>C, XM_011519000.3:c.1542G>C, XM_011519000.2:c.1542G>C, XM_011519000.1:c.1542G>C, XM_017015122.3:c.1656G>C, XM_017015122.2:c.1656G>C, XM_017015122.1:c.1656G>C, XR_929840.2:n.1927G>C, XR_929840.1:n.1904G>C, XM_011519001.2:c.1452G>C, XM_011519001.1:c.1452G>C, XM_011519002.2:c.1428G>C, XM_011519002.1:c.1428G>C, XM_011519003.2:c.1425G>C, XM_011519003.1:c.1425G>C, XM_024447666.2:c.1542G>C, XM_024447666.1:c.1542G>C, XM_024447667.2:c.1410G>C, XM_024447667.1:c.1410G>C, XM_047423854.1:c.1542G>C, XM_047423856.1:c.1746G>C, XM_047423857.1:c.1746G>C, XM_047423855.1:c.1428G>C, XM_047423859.1:c.1629G>C, XR_007061347.1:n.1927G>C, XR_007061346.1:n.1927G>C, XR_007061350.1:n.1823G>C, XR_007061345.1:n.1927G>C, XR_007061348.1:n.1837G>C, XR_007061351.1:n.1823G>C, XR_007061352.1:n.1823G>C, XR_007061349.1:n.1813G>C, XR_007061353.1:n.1733G>C, XR_007061354.1:n.1709G>C, XM_047423858.1:c.1338G>C, XM_047423861.1:c.1413G>C, XR_007061355.1:n.1927G>C, XM_047423862.1:c.849G>C, XR_007061356.1:n.1927G>C, XM_047423860.1:c.1542G>C, XM_047423863.1:c.384G>C, NP_076982.3:p.Glu582Asp, NP_001269617.1:p.Glu581Asp, NP_001341631.1:p.Glu287Asp, NP_001341626.1:p.Glu544Asp, NP_001341625.1:p.Glu543Asp, NP_001269618.1:p.Glu509Asp, NP_001341627.1:p.Glu513Asp, NP_001269619.1:p.Glu514Asp, XP_011517302.1:p.Glu514Asp, XP_016870611.1:p.Glu552Asp, XP_011517303.1:p.Glu484Asp, XP_011517304.1:p.Glu476Asp, XP_011517305.1:p.Glu475Asp, XP_024303434.1:p.Glu514Asp, XP_024303435.1:p.Glu470Asp, XP_047279810.1:p.Glu514Asp, XP_047279812.1:p.Glu582Asp, XP_047279813.1:p.Glu582Asp, XP_047279811.1:p.Glu476Asp, XP_047279815.1:p.Glu543Asp, XP_047279814.1:p.Glu446Asp, XP_047279817.1:p.Glu471Asp, XP_047279818.1:p.Glu283Asp, XP_047279816.1:p.Glu514Asp, XP_047279819.1:p.Glu128Asp

      3.

      rs1488299342 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:89338512 (GRCh38)
        9:91953427 (GRCh37)
        Canonical SPDI:
        NC_000009.12:89338511:A:G
        Gene:
        SECISBP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
        HGVS:
        NC_000009.12:g.89338512A>G, NC_000009.11:g.91953427A>G, NG_012177.1:g.25016A>G, NM_024077.5:c.1144A>G, NM_024077.4:c.1144A>G, NM_024077.3:c.1144A>G, NM_001282688.2:c.1141A>G, NM_001282688.1:c.1141A>G, NM_001354702.2:c.259A>G, NM_001354702.1:c.259A>G, NM_001354697.2:c.1030A>G, NM_001354697.1:c.1030A>G, NM_001354696.2:c.1027A>G, NM_001354696.1:c.1027A>G, NM_001282689.2:c.925A>G, NM_001282689.1:c.925A>G, NM_001354698.2:c.1027A>G, NM_001354698.1:c.1027A>G, NM_001282690.1:c.940A>G, XM_011519000.3:c.940A>G, XM_011519000.2:c.940A>G, XM_011519000.1:c.940A>G, XM_017015122.3:c.1144A>G, XM_017015122.2:c.1144A>G, XM_017015122.1:c.1144A>G, XR_929840.2:n.1325A>G, XR_929840.1:n.1302A>G, XM_011519001.2:c.940A>G, XM_011519001.1:c.940A>G, XM_011519002.2:c.826A>G, XM_011519002.1:c.826A>G, XM_011519003.2:c.823A>G, XM_011519003.1:c.823A>G, XM_024447666.2:c.1030A>G, XM_024447666.1:c.1030A>G, XM_024447667.2:c.808A>G, XM_024447667.1:c.808A>G, XM_047423854.1:c.940A>G, XM_047423856.1:c.1144A>G, XM_047423857.1:c.1144A>G, XM_047423855.1:c.826A>G, XM_047423859.1:c.1027A>G, XR_007061347.1:n.1325A>G, XR_007061346.1:n.1325A>G, XR_007061350.1:n.1221A>G, XR_007061345.1:n.1325A>G, XR_007061348.1:n.1325A>G, XR_007061351.1:n.1221A>G, XR_007061352.1:n.1221A>G, XR_007061349.1:n.1211A>G, XR_007061353.1:n.1221A>G, XR_007061354.1:n.1107A>G, XM_047423858.1:c.826A>G, XM_047423861.1:c.811A>G, XR_007061355.1:n.1325A>G, XM_047423862.1:c.247A>G, XR_007061356.1:n.1325A>G, XM_047423860.1:c.940A>G, XM_047423863.1:c.-219A>G, NP_076982.3:p.Lys382Glu, NP_001269617.1:p.Lys381Glu, NP_001341631.1:p.Lys87Glu, NP_001341626.1:p.Lys344Glu, NP_001341625.1:p.Lys343Glu, NP_001269618.1:p.Lys309Glu, NP_001341627.1:p.Lys343Glu, NP_001269619.1:p.Lys314Glu, XP_011517302.1:p.Lys314Glu, XP_016870611.1:p.Lys382Glu, XP_011517303.1:p.Lys314Glu, XP_011517304.1:p.Lys276Glu, XP_011517305.1:p.Lys275Glu, XP_024303434.1:p.Lys344Glu, XP_024303435.1:p.Lys270Glu, XP_047279810.1:p.Lys314Glu, XP_047279812.1:p.Lys382Glu, XP_047279813.1:p.Lys382Glu, XP_047279811.1:p.Lys276Glu, XP_047279815.1:p.Lys343Glu, XP_047279814.1:p.Lys276Glu, XP_047279817.1:p.Lys271Glu, XP_047279818.1:p.Lys83Glu, XP_047279816.1:p.Lys314Glu

        4.

        rs1487373072 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:89350652 (GRCh38)
          9:91965567 (GRCh37)
          Canonical SPDI:
          NC_000009.12:89350651:G:A
          Gene:
          SECISBP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.89350652G>A, NC_000009.11:g.91965567G>A, NG_012177.1:g.37156G>A, NM_024077.5:c.1913G>A, NM_024077.4:c.1913G>A, NM_024077.3:c.1913G>A, NM_001282688.2:c.1910G>A, NM_001282688.1:c.1910G>A, NM_001354702.2:c.1028G>A, NM_001354702.1:c.1028G>A, NM_001354697.2:c.1799G>A, NM_001354697.1:c.1799G>A, NM_001354696.2:c.1796G>A, NM_001354696.1:c.1796G>A, NM_001282689.2:c.1694G>A, NM_001282689.1:c.1694G>A, NM_001354698.2:c.1706G>A, NM_001354698.1:c.1706G>A, NM_001282690.1:c.1709G>A, XM_011519000.3:c.1709G>A, XM_011519000.2:c.1709G>A, XM_011519000.1:c.1709G>A, XM_017015122.3:c.1823G>A, XM_017015122.2:c.1823G>A, XM_017015122.1:c.1823G>A, XR_929840.2:n.2094G>A, XR_929840.1:n.2071G>A, XM_011519001.2:c.1619G>A, XM_011519001.1:c.1619G>A, XM_011519002.2:c.1595G>A, XM_011519002.1:c.1595G>A, XM_011519003.2:c.1592G>A, XM_011519003.1:c.1592G>A, XM_024447666.2:c.1709G>A, XM_024447666.1:c.1709G>A, XM_024447667.2:c.1577G>A, XM_024447667.1:c.1577G>A, XM_047423854.1:c.1709G>A, XM_047423856.1:c.1913G>A, XM_047423857.1:c.1913G>A, XM_047423855.1:c.1595G>A, XM_047423859.1:c.1796G>A, XR_007061347.1:n.2094G>A, XR_007061346.1:n.2094G>A, XR_007061350.1:n.1990G>A, XR_007061345.1:n.2094G>A, XR_007061348.1:n.2004G>A, XR_007061351.1:n.1990G>A, XR_007061352.1:n.1990G>A, XR_007061349.1:n.1980G>A, XR_007061353.1:n.1900G>A, XR_007061354.1:n.1876G>A, XM_047423858.1:c.1505G>A, XM_047423861.1:c.1580G>A, XR_007061355.1:n.2094G>A, XM_047423862.1:c.1016G>A, XR_007061356.1:n.2094G>A, XM_047423860.1:c.1709G>A, XM_047423863.1:c.551G>A, NP_076982.3:p.Ser638Asn, NP_001269617.1:p.Ser637Asn, NP_001341631.1:p.Ser343Asn, NP_001341626.1:p.Ser600Asn, NP_001341625.1:p.Ser599Asn, NP_001269618.1:p.Ser565Asn, NP_001341627.1:p.Ser569Asn, NP_001269619.1:p.Ser570Asn, XP_011517302.1:p.Ser570Asn, XP_016870611.1:p.Ser608Asn, XP_011517303.1:p.Ser540Asn, XP_011517304.1:p.Ser532Asn, XP_011517305.1:p.Ser531Asn, XP_024303434.1:p.Ser570Asn, XP_024303435.1:p.Ser526Asn, XP_047279810.1:p.Ser570Asn, XP_047279812.1:p.Ser638Asn, XP_047279813.1:p.Ser638Asn, XP_047279811.1:p.Ser532Asn, XP_047279815.1:p.Ser599Asn, XP_047279814.1:p.Ser502Asn, XP_047279817.1:p.Ser527Asn, XP_047279818.1:p.Ser339Asn, XP_047279816.1:p.Ser570Asn, XP_047279819.1:p.Ser184Asn

          5.

          rs1486115607 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            9:89359228 (GRCh38)
            9:91974143 (GRCh37)
            Canonical SPDI:
            NC_000009.12:89359227:G:A
            Gene:
            SECISBP2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000007/1 (GnomAD)
            HGVS:
            NC_000009.12:g.89359228G>A, NC_000009.11:g.91974143G>A, NG_012177.1:g.45732G>A, NM_024077.5:c.*404G>A, NM_024077.4:c.*404G>A, NM_024077.3:c.*404G>A, NM_001282688.2:c.*404G>A, NM_001282688.1:c.*404G>A, NM_001354702.2:c.*404G>A, NM_001354702.1:c.*404G>A, NM_001354697.2:c.*404G>A, NM_001354697.1:c.*404G>A, NM_001354696.2:c.*404G>A, NM_001354696.1:c.*404G>A, NM_001282689.2:c.*404G>A, NM_001282689.1:c.*404G>A, NM_001354698.2:c.*404G>A, NM_001354698.1:c.*404G>A, NM_001282690.1:c.*404G>A, XM_017015122.3:c.*404G>A, XM_017015122.2:c.*404G>A, XM_017015122.1:c.*404G>A, XM_011519001.2:c.*404G>A, XM_011519001.1:c.*404G>A, XM_011519002.2:c.*404G>A, XM_011519002.1:c.*404G>A, XM_011519003.2:c.*404G>A, XM_011519003.1:c.*404G>A, XM_024447666.2:c.*404G>A, XM_024447666.1:c.*404G>A, XM_024447667.2:c.*404G>A, XM_024447667.1:c.*404G>A, XM_047423858.1:c.*404G>A, XM_047423861.1:c.*404G>A, XM_047423862.1:c.*404G>A, XM_047423863.1:c.*404G>A

            6.

            rs1485761526 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              9:89334630 (GRCh38)
              9:91949545 (GRCh37)
              Canonical SPDI:
              NC_000009.12:89334629:C:T
              Gene:
              SECISBP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.89334630C>T, NC_000009.11:g.91949545C>T, NG_012177.1:g.21134C>T, NM_024077.5:c.989C>T, NM_024077.4:c.989C>T, NM_024077.3:c.989C>T, NM_001282688.2:c.986C>T, NM_001282688.1:c.986C>T, NM_001354702.2:c.104C>T, NM_001354702.1:c.104C>T, NM_001282689.2:c.770C>T, NM_001282689.1:c.770C>T, NM_001282690.1:c.785C>T, XM_011519000.3:c.785C>T, XM_011519000.2:c.785C>T, XM_011519000.1:c.785C>T, XM_017015122.3:c.989C>T, XM_017015122.2:c.989C>T, XM_017015122.1:c.989C>T, XR_929840.2:n.1170C>T, XR_929840.1:n.1147C>T, XM_011519001.2:c.785C>T, XM_011519001.1:c.785C>T, XM_047423854.1:c.785C>T, XM_047423856.1:c.989C>T, XM_047423857.1:c.989C>T, XR_007061347.1:n.1170C>T, XR_007061346.1:n.1170C>T, XR_007061350.1:n.1066C>T, XR_007061345.1:n.1170C>T, XR_007061348.1:n.1170C>T, XR_007061351.1:n.1066C>T, XR_007061352.1:n.1066C>T, XR_007061353.1:n.1066C>T, XR_007061355.1:n.1170C>T, XM_047423862.1:c.92C>T, XR_007061356.1:n.1170C>T, XM_047423860.1:c.785C>T, NP_076982.3:p.Ser330Leu, NP_001269617.1:p.Ser329Leu, NP_001341631.1:p.Ser35Leu, NP_001269618.1:p.Ser257Leu, NP_001269619.1:p.Ser262Leu, XP_011517302.1:p.Ser262Leu, XP_016870611.1:p.Ser330Leu, XP_011517303.1:p.Ser262Leu, XP_047279810.1:p.Ser262Leu, XP_047279812.1:p.Ser330Leu, XP_047279813.1:p.Ser330Leu, XP_047279818.1:p.Ser31Leu, XP_047279816.1:p.Ser262Leu

              7.

              rs1485573364 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                9:89358972 (GRCh38)
                9:91973887 (GRCh37)
                Canonical SPDI:
                NC_000009.12:89358971:T:A
                Gene:
                SECISBP2 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.89358972T>A, NC_000009.11:g.91973887T>A, NG_012177.1:g.45476T>A, NM_024077.5:c.*148T>A, NM_024077.4:c.*148T>A, NM_024077.3:c.*148T>A, NM_001282688.2:c.*148T>A, NM_001282688.1:c.*148T>A, NM_001354702.2:c.*148T>A, NM_001354702.1:c.*148T>A, NM_001354697.2:c.*148T>A, NM_001354697.1:c.*148T>A, NM_001354696.2:c.*148T>A, NM_001354696.1:c.*148T>A, NM_001282689.2:c.*148T>A, NM_001282689.1:c.*148T>A, NM_001354698.2:c.*148T>A, NM_001354698.1:c.*148T>A, NM_001282690.1:c.*148T>A, XM_017015122.3:c.*148T>A, XM_017015122.2:c.*148T>A, XM_017015122.1:c.*148T>A, XM_011519001.2:c.*148T>A, XM_011519001.1:c.*148T>A, XM_011519002.2:c.*148T>A, XM_011519002.1:c.*148T>A, XM_011519003.2:c.*148T>A, XM_011519003.1:c.*148T>A, XM_024447666.2:c.*148T>A, XM_024447666.1:c.*148T>A, XM_024447667.2:c.*148T>A, XM_024447667.1:c.*148T>A, XM_047423858.1:c.*148T>A, XM_047423861.1:c.*148T>A, XM_047423862.1:c.*148T>A, XM_047423863.1:c.*148T>A

                8.

                rs1484543119 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  9:89328812 (GRCh38)
                  9:91943727 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:89328811:G:A
                  Gene:
                  SECISBP2 (Varview)
                  Functional Consequence:
                  missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.89328812G>A, NC_000009.11:g.91943727G>A, NG_012177.1:g.15316G>A, NM_024077.5:c.727G>A, NM_024077.4:c.727G>A, NM_024077.3:c.727G>A, NM_001282688.2:c.724G>A, NM_001282688.1:c.724G>A, NM_001354702.2:c.-121G>A, NM_001354702.1:c.-121G>A, NM_001354697.2:c.727G>A, NM_001354697.1:c.727G>A, NM_001354696.2:c.727G>A, NM_001354696.1:c.727G>A, NM_001282689.2:c.508G>A, NM_001282689.1:c.508G>A, NM_001354698.2:c.727G>A, NM_001354698.1:c.727G>A, NM_001282690.1:c.523G>A, XM_011519000.3:c.523G>A, XM_011519000.2:c.523G>A, XM_011519000.1:c.523G>A, XM_017015122.3:c.727G>A, XM_017015122.2:c.727G>A, XM_017015122.1:c.727G>A, XR_929840.2:n.908G>A, XR_929840.1:n.885G>A, XM_011519001.2:c.523G>A, XM_011519001.1:c.523G>A, XM_011519002.2:c.523G>A, XM_011519002.1:c.523G>A, XM_011519003.2:c.523G>A, XM_011519003.1:c.523G>A, XM_024447666.2:c.727G>A, XM_024447666.1:c.727G>A, XM_024447667.2:c.508G>A, XM_024447667.1:c.508G>A, XM_047423854.1:c.523G>A, XM_047423856.1:c.727G>A, XM_047423857.1:c.727G>A, XM_047423855.1:c.523G>A, XM_047423859.1:c.727G>A, XR_007061347.1:n.908G>A, XR_007061346.1:n.908G>A, XR_007061350.1:n.804G>A, XR_007061345.1:n.908G>A, XR_007061348.1:n.908G>A, XR_007061351.1:n.804G>A, XR_007061352.1:n.804G>A, XR_007061349.1:n.908G>A, XR_007061353.1:n.804G>A, XR_007061354.1:n.804G>A, XM_047423858.1:c.523G>A, XM_047423861.1:c.508G>A, XR_007061355.1:n.908G>A, XR_007061356.1:n.908G>A, XM_047423860.1:c.523G>A, NP_076982.3:p.Gly243Arg, NP_001269617.1:p.Gly242Arg, NP_001341626.1:p.Gly243Arg, NP_001341625.1:p.Gly243Arg, NP_001269618.1:p.Gly170Arg, NP_001341627.1:p.Gly243Arg, NP_001269619.1:p.Gly175Arg, XP_011517302.1:p.Gly175Arg, XP_016870611.1:p.Gly243Arg, XP_011517303.1:p.Gly175Arg, XP_011517304.1:p.Gly175Arg, XP_011517305.1:p.Gly175Arg, XP_024303434.1:p.Gly243Arg, XP_024303435.1:p.Gly170Arg, XP_047279810.1:p.Gly175Arg, XP_047279812.1:p.Gly243Arg, XP_047279813.1:p.Gly243Arg, XP_047279811.1:p.Gly175Arg, XP_047279815.1:p.Gly243Arg, XP_047279814.1:p.Gly175Arg, XP_047279817.1:p.Gly170Arg, XP_047279816.1:p.Gly175Arg

                  9.

                  rs1484356208 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    9:89350716 (GRCh38)
                    9:91965631 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:89350715:G:A
                    Gene:
                    SECISBP2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.89350716G>A, NC_000009.11:g.91965631G>A, NG_012177.1:g.37220G>A, NM_024077.5:c.1977G>A, NM_024077.4:c.1977G>A, NM_024077.3:c.1977G>A, NM_001282688.2:c.1974G>A, NM_001282688.1:c.1974G>A, NM_001354702.2:c.1092G>A, NM_001354702.1:c.1092G>A, NM_001354697.2:c.1863G>A, NM_001354697.1:c.1863G>A, NM_001354696.2:c.1860G>A, NM_001354696.1:c.1860G>A, NM_001282689.2:c.1758G>A, NM_001282689.1:c.1758G>A, NM_001354698.2:c.1770G>A, NM_001354698.1:c.1770G>A, NM_001282690.1:c.1773G>A, XM_011519000.3:c.1773G>A, XM_011519000.2:c.1773G>A, XM_011519000.1:c.1773G>A, XM_017015122.3:c.1887G>A, XM_017015122.2:c.1887G>A, XM_017015122.1:c.1887G>A, XR_929840.2:n.2158G>A, XR_929840.1:n.2135G>A, XM_011519001.2:c.1683G>A, XM_011519001.1:c.1683G>A, XM_011519002.2:c.1659G>A, XM_011519002.1:c.1659G>A, XM_011519003.2:c.1656G>A, XM_011519003.1:c.1656G>A, XM_024447666.2:c.1773G>A, XM_024447666.1:c.1773G>A, XM_024447667.2:c.1641G>A, XM_024447667.1:c.1641G>A, XM_047423854.1:c.1773G>A, XM_047423856.1:c.1977G>A, XM_047423857.1:c.1977G>A, XM_047423855.1:c.1659G>A, XM_047423859.1:c.1860G>A, XR_007061347.1:n.2158G>A, XR_007061346.1:n.2158G>A, XR_007061350.1:n.2054G>A, XR_007061345.1:n.2158G>A, XR_007061348.1:n.2068G>A, XR_007061351.1:n.2054G>A, XR_007061352.1:n.2054G>A, XR_007061349.1:n.2044G>A, XR_007061353.1:n.1964G>A, XR_007061354.1:n.1940G>A, XM_047423858.1:c.1569G>A, XM_047423861.1:c.1644G>A, XR_007061355.1:n.2158G>A, XM_047423862.1:c.1080G>A, XR_007061356.1:n.2158G>A, XM_047423860.1:c.1773G>A, XM_047423863.1:c.615G>A, NP_076982.3:p.Met659Ile, NP_001269617.1:p.Met658Ile, NP_001341631.1:p.Met364Ile, NP_001341626.1:p.Met621Ile, NP_001341625.1:p.Met620Ile, NP_001269618.1:p.Met586Ile, NP_001341627.1:p.Met590Ile, NP_001269619.1:p.Met591Ile, XP_011517302.1:p.Met591Ile, XP_016870611.1:p.Met629Ile, XP_011517303.1:p.Met561Ile, XP_011517304.1:p.Met553Ile, XP_011517305.1:p.Met552Ile, XP_024303434.1:p.Met591Ile, XP_024303435.1:p.Met547Ile, XP_047279810.1:p.Met591Ile, XP_047279812.1:p.Met659Ile, XP_047279813.1:p.Met659Ile, XP_047279811.1:p.Met553Ile, XP_047279815.1:p.Met620Ile, XP_047279814.1:p.Met523Ile, XP_047279817.1:p.Met548Ile, XP_047279818.1:p.Met360Ile, XP_047279816.1:p.Met591Ile, XP_047279819.1:p.Met205Ile

                    10.

                    rs1483820164 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      9:89319783 (GRCh38)
                      9:91934698 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:89319782:A:G
                      Gene:
                      SECISBP2 (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.89319783A>G, NC_000009.11:g.91934698A>G, NG_012177.1:g.6287A>G, NM_024077.5:c.168A>G, NM_024077.4:c.168A>G, NM_024077.3:c.168A>G, NM_001282688.2:c.168A>G, NM_001282688.1:c.168A>G, NM_001354702.2:c.-680A>G, NM_001354702.1:c.-680A>G, NM_001354697.2:c.168A>G, NM_001354697.1:c.168A>G, NM_001354696.2:c.168A>G, NM_001354696.1:c.168A>G, NM_001282689.2:c.70A>G, NM_001282689.1:c.70A>G, NM_001354698.2:c.168A>G, NM_001354698.1:c.168A>G, NM_001282690.1:c.-37A>G, XM_011519000.3:c.-37A>G, XM_011519000.2:c.-37A>G, XM_011519000.1:c.-37A>G, XM_017015122.3:c.168A>G, XM_017015122.2:c.168A>G, XM_017015122.1:c.168A>G, XR_929840.2:n.349A>G, XR_929840.1:n.326A>G, XM_011519001.2:c.-37A>G, XM_011519001.1:c.-37A>G, XM_011519002.2:c.-37A>G, XM_011519002.1:c.-37A>G, XM_011519003.2:c.-37A>G, XM_011519003.1:c.-37A>G, XM_024447666.2:c.168A>G, XM_024447666.1:c.168A>G, XM_024447667.2:c.70A>G, XM_024447667.1:c.70A>G, XM_047423854.1:c.-37A>G, XM_047423856.1:c.168A>G, XM_047423857.1:c.168A>G, XM_047423855.1:c.-37A>G, XM_047423859.1:c.168A>G, XR_007061347.1:n.349A>G, XR_007061346.1:n.349A>G, XR_007061350.1:n.245A>G, XR_007061345.1:n.349A>G, XR_007061348.1:n.349A>G, XR_007061351.1:n.245A>G, XR_007061352.1:n.245A>G, XR_007061349.1:n.349A>G, XR_007061353.1:n.245A>G, XR_007061354.1:n.245A>G, XM_047423858.1:c.-37A>G, XM_047423861.1:c.70A>G, XR_007061355.1:n.349A>G, XR_007061356.1:n.349A>G, XM_047423860.1:c.-37A>G, NP_001269618.1:p.Thr24Ala, XP_024303435.1:p.Thr24Ala, XP_047279817.1:p.Thr24Ala

                      11.

                      rs1482963060 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:89338530 (GRCh38)
                        9:91953445 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:89338529:T:C
                        Gene:
                        SECISBP2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        HGVS:
                        NC_000009.12:g.89338530T>C, NC_000009.11:g.91953445T>C, NG_012177.1:g.25034T>C, NM_024077.5:c.1162T>C, NM_024077.4:c.1162T>C, NM_024077.3:c.1162T>C, NM_001282688.2:c.1159T>C, NM_001282688.1:c.1159T>C, NM_001354702.2:c.277T>C, NM_001354702.1:c.277T>C, NM_001354697.2:c.1048T>C, NM_001354697.1:c.1048T>C, NM_001354696.2:c.1045T>C, NM_001354696.1:c.1045T>C, NM_001282689.2:c.943T>C, NM_001282689.1:c.943T>C, NM_001354698.2:c.1045T>C, NM_001354698.1:c.1045T>C, NM_001282690.1:c.958T>C, XM_011519000.3:c.958T>C, XM_011519000.2:c.958T>C, XM_011519000.1:c.958T>C, XM_017015122.3:c.1162T>C, XM_017015122.2:c.1162T>C, XM_017015122.1:c.1162T>C, XR_929840.2:n.1343T>C, XR_929840.1:n.1320T>C, XM_011519001.2:c.958T>C, XM_011519001.1:c.958T>C, XM_011519002.2:c.844T>C, XM_011519002.1:c.844T>C, XM_011519003.2:c.841T>C, XM_011519003.1:c.841T>C, XM_024447666.2:c.1048T>C, XM_024447666.1:c.1048T>C, XM_024447667.2:c.826T>C, XM_024447667.1:c.826T>C, XM_047423854.1:c.958T>C, XM_047423856.1:c.1162T>C, XM_047423857.1:c.1162T>C, XM_047423855.1:c.844T>C, XM_047423859.1:c.1045T>C, XR_007061347.1:n.1343T>C, XR_007061346.1:n.1343T>C, XR_007061350.1:n.1239T>C, XR_007061345.1:n.1343T>C, XR_007061348.1:n.1343T>C, XR_007061351.1:n.1239T>C, XR_007061352.1:n.1239T>C, XR_007061349.1:n.1229T>C, XR_007061353.1:n.1239T>C, XR_007061354.1:n.1125T>C, XM_047423858.1:c.844T>C, XM_047423861.1:c.829T>C, XR_007061355.1:n.1343T>C, XM_047423862.1:c.265T>C, XR_007061356.1:n.1343T>C, XM_047423860.1:c.958T>C, XM_047423863.1:c.-201T>C, NP_076982.3:p.Ser388Pro, NP_001269617.1:p.Ser387Pro, NP_001341631.1:p.Ser93Pro, NP_001341626.1:p.Ser350Pro, NP_001341625.1:p.Ser349Pro, NP_001269618.1:p.Ser315Pro, NP_001341627.1:p.Ser349Pro, NP_001269619.1:p.Ser320Pro, XP_011517302.1:p.Ser320Pro, XP_016870611.1:p.Ser388Pro, XP_011517303.1:p.Ser320Pro, XP_011517304.1:p.Ser282Pro, XP_011517305.1:p.Ser281Pro, XP_024303434.1:p.Ser350Pro, XP_024303435.1:p.Ser276Pro, XP_047279810.1:p.Ser320Pro, XP_047279812.1:p.Ser388Pro, XP_047279813.1:p.Ser388Pro, XP_047279811.1:p.Ser282Pro, XP_047279815.1:p.Ser349Pro, XP_047279814.1:p.Ser282Pro, XP_047279817.1:p.Ser277Pro, XP_047279818.1:p.Ser89Pro, XP_047279816.1:p.Ser320Pro

                        12.

                        rs1482118786 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          9:89319019 (GRCh38)
                          9:91933934 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:89319018:C:G,NC_000009.12:89319018:C:T
                          Gene:
                          SECISBP2 (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000036/5 (GnomAD)
                          HGVS:
                          NC_000009.12:g.89319019C>G, NC_000009.12:g.89319019C>T, NC_000009.11:g.91933934C>G, NC_000009.11:g.91933934C>T, NG_012177.1:g.5523C>G, NG_012177.1:g.5523C>T, NM_001282690.1:c.-217C>G, NM_001282690.1:c.-217C>T, XM_011519000.3:c.-217C>G, XM_011519000.3:c.-217C>T, XM_011519000.2:c.-217C>G, XM_011519000.2:c.-217C>T, XM_011519000.1:c.-217C>G, XM_011519000.1:c.-217C>T, XR_929840.2:n.169C>G, XR_929840.2:n.169C>T, XR_929840.1:n.146C>G, XR_929840.1:n.146C>T, XM_011519001.2:c.-217C>G, XM_011519001.2:c.-217C>T, XM_011519001.1:c.-217C>G, XM_011519001.1:c.-217C>T, XM_011519002.2:c.-217C>G, XM_011519002.2:c.-217C>T, XM_011519002.1:c.-217C>G, XM_011519002.1:c.-217C>T, XM_011519003.2:c.-217C>G, XM_011519003.2:c.-217C>T, XM_011519003.1:c.-217C>G, XM_011519003.1:c.-217C>T, XM_047423854.1:c.-217C>G, XM_047423854.1:c.-217C>T, XM_047423855.1:c.-217C>G, XM_047423855.1:c.-217C>T, XR_007061347.1:n.169C>G, XR_007061347.1:n.169C>T, XR_007061346.1:n.169C>G, XR_007061346.1:n.169C>T, XR_007061345.1:n.169C>G, XR_007061345.1:n.169C>T, XR_007061348.1:n.169C>G, XR_007061348.1:n.169C>T, XR_007061349.1:n.169C>G, XR_007061349.1:n.169C>T, XM_047423858.1:c.-217C>G, XM_047423858.1:c.-217C>T, XR_007061355.1:n.169C>G, XR_007061355.1:n.169C>T, XR_007061356.1:n.169C>G, XR_007061356.1:n.169C>T, XM_047423860.1:c.-217C>G, XM_047423860.1:c.-217C>T

                          13.

                          rs1479989656 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:89358795 (GRCh38)
                            9:91973710 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:89358794:A:G
                            Gene:
                            SECISBP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000015/4 (TOPMED)
                            G=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000009.12:g.89358795A>G, NC_000009.11:g.91973710A>G, NG_012177.1:g.45299A>G, NM_024077.5:c.2536A>G, NM_024077.4:c.2536A>G, NM_024077.3:c.2536A>G, NM_001282688.2:c.2533A>G, NM_001282688.1:c.2533A>G, NM_001354702.2:c.1651A>G, NM_001354702.1:c.1651A>G, NM_001354697.2:c.2422A>G, NM_001354697.1:c.2422A>G, NM_001354696.2:c.2419A>G, NM_001354696.1:c.2419A>G, NM_001282689.2:c.2317A>G, NM_001282689.1:c.2317A>G, NM_001354698.2:c.2329A>G, NM_001354698.1:c.2329A>G, NM_001282690.1:c.2332A>G, XM_011519000.3:c.2332A>G, XM_011519000.2:c.2332A>G, XM_011519000.1:c.2332A>G, XM_017015122.3:c.2446A>G, XM_017015122.2:c.2446A>G, XM_017015122.1:c.2446A>G, XR_929840.2:n.2717A>G, XR_929840.1:n.2694A>G, XM_011519001.2:c.2242A>G, XM_011519001.1:c.2242A>G, XM_011519002.2:c.2218A>G, XM_011519002.1:c.2218A>G, XM_011519003.2:c.2215A>G, XM_011519003.1:c.2215A>G, XM_024447666.2:c.2332A>G, XM_024447666.1:c.2332A>G, XM_024447667.2:c.2200A>G, XM_024447667.1:c.2200A>G, XM_047423854.1:c.2332A>G, XM_047423856.1:c.2536A>G, XM_047423857.1:c.2536A>G, XM_047423855.1:c.2218A>G, XM_047423859.1:c.2419A>G, XR_007061347.1:n.2717A>G, XR_007061346.1:n.2717A>G, XR_007061350.1:n.2613A>G, XR_007061345.1:n.2717A>G, XR_007061348.1:n.2627A>G, XR_007061351.1:n.2613A>G, XR_007061352.1:n.2613A>G, XR_007061349.1:n.2603A>G, XR_007061353.1:n.2523A>G, XR_007061354.1:n.2499A>G, XM_047423858.1:c.2128A>G, XM_047423861.1:c.2203A>G, XM_047423862.1:c.1639A>G, XM_047423863.1:c.1174A>G, NP_076982.3:p.Thr846Ala, NP_001269617.1:p.Thr845Ala, NP_001341631.1:p.Thr551Ala, NP_001341626.1:p.Thr808Ala, NP_001341625.1:p.Thr807Ala, NP_001269618.1:p.Thr773Ala, NP_001341627.1:p.Thr777Ala, NP_001269619.1:p.Thr778Ala, XP_011517302.1:p.Thr778Ala, XP_016870611.1:p.Thr816Ala, XP_011517303.1:p.Thr748Ala, XP_011517304.1:p.Thr740Ala, XP_011517305.1:p.Thr739Ala, XP_024303434.1:p.Thr778Ala, XP_024303435.1:p.Thr734Ala, XP_047279810.1:p.Thr778Ala, XP_047279812.1:p.Thr846Ala, XP_047279813.1:p.Thr846Ala, XP_047279811.1:p.Thr740Ala, XP_047279815.1:p.Thr807Ala, XP_047279814.1:p.Thr710Ala, XP_047279817.1:p.Thr735Ala, XP_047279818.1:p.Thr547Ala, XP_047279819.1:p.Thr392Ala

                            14.

                            rs1479360071 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:89328726 (GRCh38)
                              9:91943641 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:89328725:C:T
                              Gene:
                              SECISBP2 (Varview)
                              Functional Consequence:
                              missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000031/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000009.12:g.89328726C>T, NC_000009.11:g.91943641C>T, NG_012177.1:g.15230C>T, NM_024077.5:c.641C>T, NM_024077.4:c.641C>T, NM_024077.3:c.641C>T, NM_001282688.2:c.638C>T, NM_001282688.1:c.638C>T, NM_001354702.2:c.-207C>T, NM_001354702.1:c.-207C>T, NM_001354697.2:c.641C>T, NM_001354697.1:c.641C>T, NM_001354696.2:c.641C>T, NM_001354696.1:c.641C>T, NM_001282689.2:c.422C>T, NM_001282689.1:c.422C>T, NM_001354698.2:c.641C>T, NM_001354698.1:c.641C>T, NM_001282690.1:c.437C>T, XM_011519000.3:c.437C>T, XM_011519000.2:c.437C>T, XM_011519000.1:c.437C>T, XM_017015122.3:c.641C>T, XM_017015122.2:c.641C>T, XM_017015122.1:c.641C>T, XR_929840.2:n.822C>T, XR_929840.1:n.799C>T, XM_011519001.2:c.437C>T, XM_011519001.1:c.437C>T, XM_011519002.2:c.437C>T, XM_011519002.1:c.437C>T, XM_011519003.2:c.437C>T, XM_011519003.1:c.437C>T, XM_024447666.2:c.641C>T, XM_024447666.1:c.641C>T, XM_024447667.2:c.422C>T, XM_024447667.1:c.422C>T, XM_047423854.1:c.437C>T, XM_047423856.1:c.641C>T, XM_047423857.1:c.641C>T, XM_047423855.1:c.437C>T, XM_047423859.1:c.641C>T, XR_007061347.1:n.822C>T, XR_007061346.1:n.822C>T, XR_007061350.1:n.718C>T, XR_007061345.1:n.822C>T, XR_007061348.1:n.822C>T, XR_007061351.1:n.718C>T, XR_007061352.1:n.718C>T, XR_007061349.1:n.822C>T, XR_007061353.1:n.718C>T, XR_007061354.1:n.718C>T, XM_047423858.1:c.437C>T, XM_047423861.1:c.422C>T, XR_007061355.1:n.822C>T, XR_007061356.1:n.822C>T, XM_047423860.1:c.437C>T, NP_076982.3:p.Pro214Leu, NP_001269617.1:p.Pro213Leu, NP_001341626.1:p.Pro214Leu, NP_001341625.1:p.Pro214Leu, NP_001269618.1:p.Pro141Leu, NP_001341627.1:p.Pro214Leu, NP_001269619.1:p.Pro146Leu, XP_011517302.1:p.Pro146Leu, XP_016870611.1:p.Pro214Leu, XP_011517303.1:p.Pro146Leu, XP_011517304.1:p.Pro146Leu, XP_011517305.1:p.Pro146Leu, XP_024303434.1:p.Pro214Leu, XP_024303435.1:p.Pro141Leu, XP_047279810.1:p.Pro146Leu, XP_047279812.1:p.Pro214Leu, XP_047279813.1:p.Pro214Leu, XP_047279811.1:p.Pro146Leu, XP_047279815.1:p.Pro214Leu, XP_047279814.1:p.Pro146Leu, XP_047279817.1:p.Pro141Leu, XP_047279816.1:p.Pro146Leu

                              15.

                              rs1479188962 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:89350816 (GRCh38)
                                9:91965731 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:89350815:A:G
                                Gene:
                                SECISBP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000009.12:g.89350816A>G, NC_000009.11:g.91965731A>G, NG_012177.1:g.37320A>G, NM_024077.5:c.2077A>G, NM_024077.4:c.2077A>G, NM_024077.3:c.2077A>G, NM_001282688.2:c.2074A>G, NM_001282688.1:c.2074A>G, NM_001354702.2:c.1192A>G, NM_001354702.1:c.1192A>G, NM_001354697.2:c.1963A>G, NM_001354697.1:c.1963A>G, NM_001354696.2:c.1960A>G, NM_001354696.1:c.1960A>G, NM_001282689.2:c.1858A>G, NM_001282689.1:c.1858A>G, NM_001354698.2:c.1870A>G, NM_001354698.1:c.1870A>G, NM_001282690.1:c.1873A>G, XM_011519000.3:c.1873A>G, XM_011519000.2:c.1873A>G, XM_011519000.1:c.1873A>G, XM_017015122.3:c.1987A>G, XM_017015122.2:c.1987A>G, XM_017015122.1:c.1987A>G, XR_929840.2:n.2258A>G, XR_929840.1:n.2235A>G, XM_011519001.2:c.1783A>G, XM_011519001.1:c.1783A>G, XM_011519002.2:c.1759A>G, XM_011519002.1:c.1759A>G, XM_011519003.2:c.1756A>G, XM_011519003.1:c.1756A>G, XM_024447666.2:c.1873A>G, XM_024447666.1:c.1873A>G, XM_024447667.2:c.1741A>G, XM_024447667.1:c.1741A>G, XM_047423854.1:c.1873A>G, XM_047423856.1:c.2077A>G, XM_047423857.1:c.2077A>G, XM_047423855.1:c.1759A>G, XM_047423859.1:c.1960A>G, XR_007061347.1:n.2258A>G, XR_007061346.1:n.2258A>G, XR_007061350.1:n.2154A>G, XR_007061345.1:n.2258A>G, XR_007061348.1:n.2168A>G, XR_007061351.1:n.2154A>G, XR_007061352.1:n.2154A>G, XR_007061349.1:n.2144A>G, XR_007061353.1:n.2064A>G, XR_007061354.1:n.2040A>G, XM_047423858.1:c.1669A>G, XM_047423861.1:c.1744A>G, XR_007061355.1:n.2258A>G, XM_047423862.1:c.1180A>G, XR_007061356.1:n.2258A>G, XM_047423860.1:c.1873A>G, XM_047423863.1:c.715A>G, NP_076982.3:p.Ile693Val, NP_001269617.1:p.Ile692Val, NP_001341631.1:p.Ile398Val, NP_001341626.1:p.Ile655Val, NP_001341625.1:p.Ile654Val, NP_001269618.1:p.Ile620Val, NP_001341627.1:p.Ile624Val, NP_001269619.1:p.Ile625Val, XP_011517302.1:p.Ile625Val, XP_016870611.1:p.Ile663Val, XP_011517303.1:p.Ile595Val, XP_011517304.1:p.Ile587Val, XP_011517305.1:p.Ile586Val, XP_024303434.1:p.Ile625Val, XP_024303435.1:p.Ile581Val, XP_047279810.1:p.Ile625Val, XP_047279812.1:p.Ile693Val, XP_047279813.1:p.Ile693Val, XP_047279811.1:p.Ile587Val, XP_047279815.1:p.Ile654Val, XP_047279814.1:p.Ile557Val, XP_047279817.1:p.Ile582Val, XP_047279818.1:p.Ile394Val, XP_047279816.1:p.Ile625Val, XP_047279819.1:p.Ile239Val

                                16.

                                rs1478740144 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:89348132 (GRCh38)
                                  9:91963047 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:89348131:G:A
                                  Gene:
                                  SECISBP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.89348132G>A, NC_000009.11:g.91963047G>A, NG_012177.1:g.34636G>A, NM_024077.5:c.1656G>A, NM_024077.4:c.1656G>A, NM_024077.3:c.1656G>A, NM_001282688.2:c.1653G>A, NM_001282688.1:c.1653G>A, NM_001354702.2:c.771G>A, NM_001354702.1:c.771G>A, NM_001354697.2:c.1542G>A, NM_001354697.1:c.1542G>A, NM_001354696.2:c.1539G>A, NM_001354696.1:c.1539G>A, NM_001282689.2:c.1437G>A, NM_001282689.1:c.1437G>A, NM_001354698.2:c.1449G>A, NM_001354698.1:c.1449G>A, NM_001282690.1:c.1452G>A, XM_011519000.3:c.1452G>A, XM_011519000.2:c.1452G>A, XM_011519000.1:c.1452G>A, XM_017015122.3:c.1566G>A, XM_017015122.2:c.1566G>A, XM_017015122.1:c.1566G>A, XR_929840.2:n.1837G>A, XR_929840.1:n.1814G>A, XM_011519001.2:c.1362G>A, XM_011519001.1:c.1362G>A, XM_011519002.2:c.1338G>A, XM_011519002.1:c.1338G>A, XM_011519003.2:c.1335G>A, XM_011519003.1:c.1335G>A, XM_024447666.2:c.1452G>A, XM_024447666.1:c.1452G>A, XM_024447667.2:c.1320G>A, XM_024447667.1:c.1320G>A, XM_047423854.1:c.1452G>A, XM_047423856.1:c.1656G>A, XM_047423857.1:c.1656G>A, XM_047423855.1:c.1338G>A, XM_047423859.1:c.1539G>A, XR_007061347.1:n.1837G>A, XR_007061346.1:n.1837G>A, XR_007061350.1:n.1733G>A, XR_007061345.1:n.1837G>A, XR_007061348.1:n.1747G>A, XR_007061351.1:n.1733G>A, XR_007061352.1:n.1733G>A, XR_007061349.1:n.1723G>A, XR_007061353.1:n.1643G>A, XR_007061354.1:n.1619G>A, XM_047423858.1:c.1248G>A, XM_047423861.1:c.1323G>A, XR_007061355.1:n.1837G>A, XM_047423862.1:c.759G>A, XR_007061356.1:n.1837G>A, XM_047423860.1:c.1452G>A, XM_047423863.1:c.294G>A

                                  17.

                                  rs1478558028 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    9:89349865 (GRCh38)
                                    9:91964781 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:89349865:A:AA
                                    Gene:
                                    SECISBP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                                    HGVS:
                                    NC_000009.12:g.89349866dup, NC_000009.11:g.91964781dup, NG_012177.1:g.36370dup, NM_024077.5:c.1829dup, NM_024077.4:c.1829dup, NM_024077.3:c.1829dup, NM_001282688.2:c.1826dup, NM_001282688.1:c.1826dup, NM_001354702.2:c.944dup, NM_001354702.1:c.944dup, NM_001354697.2:c.1715dup, NM_001354697.1:c.1715dup, NM_001354696.2:c.1712dup, NM_001354696.1:c.1712dup, NM_001282689.2:c.1610dup, NM_001282689.1:c.1610dup, NM_001354698.2:c.1622dup, NM_001354698.1:c.1622dup, NM_001282690.1:c.1625dup, XM_011519000.3:c.1625dup, XM_011519000.2:c.1625dup, XM_011519000.1:c.1625dup, XM_017015122.3:c.1739dup, XM_017015122.2:c.1739dup, XM_017015122.1:c.1739dup, XR_929840.2:n.2010dup, XR_929840.1:n.1987dup, XM_011519001.2:c.1535dup, XM_011519001.1:c.1535dup, XM_011519002.2:c.1511dup, XM_011519002.1:c.1511dup, XM_011519003.2:c.1508dup, XM_011519003.1:c.1508dup, XM_024447666.2:c.1625dup, XM_024447666.1:c.1625dup, XM_024447667.2:c.1493dup, XM_024447667.1:c.1493dup, XM_047423854.1:c.1625dup, XM_047423856.1:c.1829dup, XM_047423857.1:c.1829dup, XM_047423855.1:c.1511dup, XM_047423859.1:c.1712dup, XR_007061347.1:n.2010dup, XR_007061346.1:n.2010dup, XR_007061350.1:n.1906dup, XR_007061345.1:n.2010dup, XR_007061348.1:n.1920dup, XR_007061351.1:n.1906dup, XR_007061352.1:n.1906dup, XR_007061349.1:n.1896dup, XR_007061353.1:n.1816dup, XR_007061354.1:n.1792dup, XM_047423858.1:c.1421dup, XM_047423861.1:c.1496dup, XR_007061355.1:n.2010dup, XM_047423862.1:c.932dup, XR_007061356.1:n.2010dup, XM_047423860.1:c.1625dup, XM_047423863.1:c.467dup, NP_076982.3:p.Ala611fs, NP_001269617.1:p.Ala610fs, NP_001341631.1:p.Ala316fs, NP_001341626.1:p.Ala573fs, NP_001341625.1:p.Ala572fs, NP_001269618.1:p.Ala538fs, NP_001341627.1:p.Ala542fs, NP_001269619.1:p.Ala543fs, XP_011517302.1:p.Ala543fs, XP_016870611.1:p.Ala581fs, XP_011517303.1:p.Ala513fs, XP_011517304.1:p.Ala505fs, XP_011517305.1:p.Ala504fs, XP_024303434.1:p.Ala543fs, XP_024303435.1:p.Ala499fs, XP_047279810.1:p.Ala543fs, XP_047279812.1:p.Ala611fs, XP_047279813.1:p.Ala611fs, XP_047279811.1:p.Ala505fs, XP_047279815.1:p.Ala572fs, XP_047279814.1:p.Ala475fs, XP_047279817.1:p.Ala500fs, XP_047279818.1:p.Ala312fs, XP_047279816.1:p.Ala543fs, XP_047279819.1:p.Ala157fs

                                    18.

                                    rs1478391739 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      9:89328773 (GRCh38)
                                      9:91943688 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:89328772:G:A
                                      Gene:
                                      SECISBP2 (Varview)
                                      Functional Consequence:
                                      missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000009.12:g.89328773G>A, NC_000009.11:g.91943688G>A, NG_012177.1:g.15277G>A, NM_024077.5:c.688G>A, NM_024077.4:c.688G>A, NM_024077.3:c.688G>A, NM_001282688.2:c.685G>A, NM_001282688.1:c.685G>A, NM_001354702.2:c.-160G>A, NM_001354702.1:c.-160G>A, NM_001354697.2:c.688G>A, NM_001354697.1:c.688G>A, NM_001354696.2:c.688G>A, NM_001354696.1:c.688G>A, NM_001282689.2:c.469G>A, NM_001282689.1:c.469G>A, NM_001354698.2:c.688G>A, NM_001354698.1:c.688G>A, NM_001282690.1:c.484G>A, XM_011519000.3:c.484G>A, XM_011519000.2:c.484G>A, XM_011519000.1:c.484G>A, XM_017015122.3:c.688G>A, XM_017015122.2:c.688G>A, XM_017015122.1:c.688G>A, XR_929840.2:n.869G>A, XR_929840.1:n.846G>A, XM_011519001.2:c.484G>A, XM_011519001.1:c.484G>A, XM_011519002.2:c.484G>A, XM_011519002.1:c.484G>A, XM_011519003.2:c.484G>A, XM_011519003.1:c.484G>A, XM_024447666.2:c.688G>A, XM_024447666.1:c.688G>A, XM_024447667.2:c.469G>A, XM_024447667.1:c.469G>A, XM_047423854.1:c.484G>A, XM_047423856.1:c.688G>A, XM_047423857.1:c.688G>A, XM_047423855.1:c.484G>A, XM_047423859.1:c.688G>A, XR_007061347.1:n.869G>A, XR_007061346.1:n.869G>A, XR_007061350.1:n.765G>A, XR_007061345.1:n.869G>A, XR_007061348.1:n.869G>A, XR_007061351.1:n.765G>A, XR_007061352.1:n.765G>A, XR_007061349.1:n.869G>A, XR_007061353.1:n.765G>A, XR_007061354.1:n.765G>A, XM_047423858.1:c.484G>A, XM_047423861.1:c.469G>A, XR_007061355.1:n.869G>A, XR_007061356.1:n.869G>A, XM_047423860.1:c.484G>A, NP_076982.3:p.Glu230Lys, NP_001269617.1:p.Glu229Lys, NP_001341626.1:p.Glu230Lys, NP_001341625.1:p.Glu230Lys, NP_001269618.1:p.Glu157Lys, NP_001341627.1:p.Glu230Lys, NP_001269619.1:p.Glu162Lys, XP_011517302.1:p.Glu162Lys, XP_016870611.1:p.Glu230Lys, XP_011517303.1:p.Glu162Lys, XP_011517304.1:p.Glu162Lys, XP_011517305.1:p.Glu162Lys, XP_024303434.1:p.Glu230Lys, XP_024303435.1:p.Glu157Lys, XP_047279810.1:p.Glu162Lys, XP_047279812.1:p.Glu230Lys, XP_047279813.1:p.Glu230Lys, XP_047279811.1:p.Glu162Lys, XP_047279815.1:p.Glu230Lys, XP_047279814.1:p.Glu162Lys, XP_047279817.1:p.Glu157Lys, XP_047279816.1:p.Glu162Lys

                                      19.

                                      rs1477949406 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:89358018 (GRCh38)
                                        9:91972933 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:89358017:T:C
                                        Gene:
                                        SECISBP2 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_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_000009.12:g.89358018T>C, NC_000009.11:g.91972933T>C, NG_012177.1:g.44522T>C, NM_024077.5:c.2288T>C, NM_024077.4:c.2288T>C, NM_024077.3:c.2288T>C, NM_001282688.2:c.2285T>C, NM_001282688.1:c.2285T>C, NM_001354702.2:c.1403T>C, NM_001354702.1:c.1403T>C, NM_001354697.2:c.2174T>C, NM_001354697.1:c.2174T>C, NM_001354696.2:c.2171T>C, NM_001354696.1:c.2171T>C, NM_001282689.2:c.2069T>C, NM_001282689.1:c.2069T>C, NM_001354698.2:c.2081T>C, NM_001354698.1:c.2081T>C, NM_001282690.1:c.2084T>C, XM_011519000.3:c.2084T>C, XM_011519000.2:c.2084T>C, XM_011519000.1:c.2084T>C, XM_017015122.3:c.2198T>C, XM_017015122.2:c.2198T>C, XM_017015122.1:c.2198T>C, XR_929840.2:n.2469T>C, XR_929840.1:n.2446T>C, XM_011519001.2:c.1994T>C, XM_011519001.1:c.1994T>C, XM_011519002.2:c.1970T>C, XM_011519002.1:c.1970T>C, XM_011519003.2:c.1967T>C, XM_011519003.1:c.1967T>C, XM_024447666.2:c.2084T>C, XM_024447666.1:c.2084T>C, XM_024447667.2:c.1952T>C, XM_024447667.1:c.1952T>C, XM_047423854.1:c.2084T>C, XM_047423856.1:c.2288T>C, XM_047423857.1:c.2288T>C, XM_047423855.1:c.1970T>C, XM_047423859.1:c.2171T>C, XR_007061347.1:n.2469T>C, XR_007061346.1:n.2469T>C, XR_007061350.1:n.2365T>C, XR_007061345.1:n.2469T>C, XR_007061348.1:n.2379T>C, XR_007061351.1:n.2365T>C, XR_007061352.1:n.2365T>C, XR_007061349.1:n.2355T>C, XR_007061353.1:n.2275T>C, XR_007061354.1:n.2251T>C, XM_047423858.1:c.1880T>C, XM_047423861.1:c.1955T>C, XM_047423862.1:c.1391T>C, XM_047423860.1:c.1929T>C, XM_047423863.1:c.926T>C, NP_076982.3:p.Val763Ala, NP_001269617.1:p.Val762Ala, NP_001341631.1:p.Val468Ala, NP_001341626.1:p.Val725Ala, NP_001341625.1:p.Val724Ala, NP_001269618.1:p.Val690Ala, NP_001341627.1:p.Val694Ala, NP_001269619.1:p.Val695Ala, XP_011517302.1:p.Val695Ala, XP_016870611.1:p.Val733Ala, XP_011517303.1:p.Val665Ala, XP_011517304.1:p.Val657Ala, XP_011517305.1:p.Val656Ala, XP_024303434.1:p.Val695Ala, XP_024303435.1:p.Val651Ala, XP_047279810.1:p.Val695Ala, XP_047279812.1:p.Val763Ala, XP_047279813.1:p.Val763Ala, XP_047279811.1:p.Val657Ala, XP_047279815.1:p.Val724Ala, XP_047279814.1:p.Val627Ala, XP_047279817.1:p.Val652Ala, XP_047279818.1:p.Val464Ala, XP_047279819.1:p.Val309Ala

                                        20.

                                        rs1476810051 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          9:89339944 (GRCh38)
                                          9:91954859 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:89339943:G:A
                                          Gene:
                                          SECISBP2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.89339944G>A, NC_000009.11:g.91954859G>A, NG_012177.1:g.26448G>A, NM_024077.5:c.1293G>A, NM_024077.4:c.1293G>A, NM_024077.3:c.1293G>A, NM_001282688.2:c.1290G>A, NM_001282688.1:c.1290G>A, NM_001354702.2:c.408G>A, NM_001354702.1:c.408G>A, NM_001354697.2:c.1179G>A, NM_001354697.1:c.1179G>A, NM_001354696.2:c.1176G>A, NM_001354696.1:c.1176G>A, NM_001282689.2:c.1074G>A, NM_001282689.1:c.1074G>A, NM_001282690.1:c.1089G>A, XM_011519000.3:c.1089G>A, XM_011519000.2:c.1089G>A, XM_011519000.1:c.1089G>A, XR_929840.2:n.1474G>A, XR_929840.1:n.1451G>A, XM_011519002.2:c.975G>A, XM_011519002.1:c.975G>A, XM_011519003.2:c.972G>A, XM_011519003.1:c.972G>A, XM_024447667.2:c.957G>A, XM_024447667.1:c.957G>A, XM_047423854.1:c.1089G>A, XM_047423856.1:c.1293G>A, XM_047423857.1:c.1293G>A, XM_047423855.1:c.975G>A, XM_047423859.1:c.1176G>A, XR_007061347.1:n.1474G>A, XR_007061346.1:n.1474G>A, XR_007061350.1:n.1370G>A, XR_007061345.1:n.1474G>A, XR_007061351.1:n.1370G>A, XR_007061352.1:n.1370G>A, XR_007061349.1:n.1360G>A, XR_007061354.1:n.1256G>A, XM_047423861.1:c.960G>A, XR_007061355.1:n.1474G>A, XM_047423862.1:c.396G>A, XR_007061356.1:n.1474G>A, XM_047423860.1:c.1089G>A, XM_047423863.1:c.-70G>A

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