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Items: 1 to 20 of 1128

1.

rs1490281842 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    4:109521118 (GRCh38)
    4:110442274 (GRCh37)
    Canonical SPDI:
    NC_000004.12:109521117:T:C
    Gene:
    SEC24B (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_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_000004.12:g.109521118T>C, NC_000004.11:g.110442274T>C, NG_032166.1:g.92304T>C, NM_006323.5:c.2247T>C, NM_006323.4:c.2247T>C, NM_006323.3:c.2247T>C, NM_006323.2:c.2247T>C, NM_001042734.4:c.2142T>C, NM_001042734.3:c.2142T>C, NM_001042734.2:c.2142T>C, NM_001042734.1:c.2142T>C, NM_001300813.3:c.2337T>C, NM_001300813.2:c.2337T>C, NM_001300813.1:c.2337T>C, NM_001318085.2:c.2244T>C, NM_001318085.1:c.2244T>C, NM_001318086.2:c.2139T>C, NM_001318086.1:c.2139T>C, XM_011531536.4:c.2175T>C, XM_011531536.3:c.2175T>C, XM_011531536.2:c.2175T>C, XM_011531536.1:c.2175T>C, XM_011531537.4:c.2166T>C, XM_011531537.3:c.2166T>C, XM_011531537.2:c.2166T>C, XM_011531537.1:c.2166T>C, XM_011531540.4:c.642T>C, XM_011531540.3:c.642T>C, XM_011531540.2:c.642T>C, XM_011531540.1:c.642T>C, XM_017007652.3:c.1959T>C, XM_017007652.2:c.1959T>C, XM_017007652.1:c.1959T>C, XM_047449512.1:c.2163T>C, XM_047449514.1:c.2070T>C, XM_047449515.1:c.2061T>C, XM_047449516.1:c.2058T>C, XM_047449513.1:c.2097T>C, XM_047449517.1:c.1992T>C, XM_047449518.1:c.1989T>C, XM_047449519.1:c.1956T>C, XM_047449520.1:c.1809T>C, XM_047449521.1:c.1806T>C

    2.

    rs1490209166 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:109511989 (GRCh38)
      4:110433145 (GRCh37)
      Canonical SPDI:
      NC_000004.12:109511988:G:A
      Gene:
      SEC24B (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.109511989G>A, NC_000004.11:g.110433145G>A, NG_032166.1:g.83175G>A, NM_006323.5:c.1809G>A, NM_006323.4:c.1809G>A, NM_006323.3:c.1809G>A, NM_006323.2:c.1809G>A, NM_001042734.4:c.1704G>A, NM_001042734.3:c.1704G>A, NM_001042734.2:c.1704G>A, NM_001042734.1:c.1704G>A, NM_001300813.3:c.1899G>A, NM_001300813.2:c.1899G>A, NM_001300813.1:c.1899G>A, NM_001318085.2:c.1806G>A, NM_001318085.1:c.1806G>A, NM_001318086.2:c.1701G>A, NM_001318086.1:c.1701G>A, XM_011531536.4:c.1737G>A, XM_011531536.3:c.1737G>A, XM_011531536.2:c.1737G>A, XM_011531536.1:c.1737G>A, XM_011531537.4:c.1728G>A, XM_011531537.3:c.1728G>A, XM_011531537.2:c.1728G>A, XM_011531537.1:c.1728G>A, XM_011531540.4:c.204G>A, XM_011531540.3:c.204G>A, XM_011531540.2:c.204G>A, XM_011531540.1:c.204G>A, XM_017007652.3:c.1521G>A, XM_017007652.2:c.1521G>A, XM_017007652.1:c.1521G>A, XM_047449512.1:c.1725G>A, XM_047449514.1:c.1632G>A, XM_047449515.1:c.1623G>A, XM_047449516.1:c.1620G>A, XM_047449513.1:c.1659G>A, XM_047449517.1:c.1554G>A, XM_047449518.1:c.1551G>A, XM_047449519.1:c.1518G>A, XM_047449520.1:c.1371G>A, XM_047449521.1:c.1368G>A

      3.

      rs1489164584 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:109491389 (GRCh38)
        4:110412545 (GRCh37)
        Canonical SPDI:
        NC_000004.12:109491388:G:A
        Gene:
        SEC24B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000071/1 (ALFA)
        A=0.000008/2 (TOPMED)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000004.12:g.109491389G>A, NC_000004.11:g.110412545G>A, NG_032166.1:g.62575G>A, NM_006323.5:c.1228G>A, NM_006323.4:c.1228G>A, NM_006323.3:c.1228G>A, NM_006323.2:c.1228G>A, NM_001042734.4:c.1123G>A, NM_001042734.3:c.1123G>A, NM_001042734.2:c.1123G>A, NM_001042734.1:c.1123G>A, NM_001300813.3:c.1321G>A, NM_001300813.2:c.1321G>A, NM_001300813.1:c.1321G>A, NM_001318085.2:c.1228G>A, NM_001318085.1:c.1228G>A, NM_001318086.2:c.1123G>A, NM_001318086.1:c.1123G>A, XM_011531536.4:c.1156G>A, XM_011531536.3:c.1156G>A, XM_011531536.2:c.1156G>A, XM_011531536.1:c.1156G>A, XM_011531537.4:c.1147G>A, XM_011531537.3:c.1147G>A, XM_011531537.2:c.1147G>A, XM_011531537.1:c.1147G>A, XM_017007652.3:c.940G>A, XM_017007652.2:c.940G>A, XM_017007652.1:c.940G>A, XM_047449512.1:c.1147G>A, XM_047449514.1:c.1051G>A, XM_047449515.1:c.1042G>A, XM_047449516.1:c.1042G>A, XM_047449513.1:c.1078G>A, XM_047449517.1:c.973G>A, XM_047449518.1:c.973G>A, XM_047449519.1:c.940G>A, XM_047449520.1:c.790G>A, XM_047449521.1:c.790G>A, NP_006314.2:p.Glu410Lys, NP_001036199.1:p.Glu375Lys, NP_001287742.1:p.Glu441Lys, NP_001305014.1:p.Glu410Lys, NP_001305015.1:p.Glu375Lys, XP_011529838.1:p.Glu386Lys, XP_011529839.1:p.Glu383Lys, XP_016863141.1:p.Glu314Lys, XP_047305468.1:p.Glu383Lys, XP_047305470.1:p.Glu351Lys, XP_047305471.1:p.Glu348Lys, XP_047305472.1:p.Glu348Lys, XP_047305469.1:p.Glu360Lys, XP_047305473.1:p.Glu325Lys, XP_047305474.1:p.Glu325Lys, XP_047305475.1:p.Glu314Lys, XP_047305476.1:p.Glu264Lys, XP_047305477.1:p.Glu264Lys

        4.

        rs1488248228 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          4:109531393 (GRCh38)
          4:110452549 (GRCh37)
          Canonical SPDI:
          NC_000004.12:109531392:T:C
          Gene:
          SEC24B (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000028/1 (ALFA)
          C=0.000007/1 (GnomAD)
          C=0.000011/3 (TOPMED)
          HGVS:
          NC_000004.12:g.109531393T>C, NC_000004.11:g.110452549T>C, NG_032166.1:g.102579T>C, NM_006323.5:c.3261T>C, NM_006323.4:c.3261T>C, NM_006323.3:c.3261T>C, NM_006323.2:c.3261T>C, NM_001042734.4:c.3156T>C, NM_001042734.3:c.3156T>C, NM_001042734.2:c.3156T>C, NM_001042734.1:c.3156T>C, NM_001300813.3:c.3351T>C, NM_001300813.2:c.3351T>C, NM_001300813.1:c.3351T>C, NM_001318085.2:c.3258T>C, NM_001318085.1:c.3258T>C, NM_001318086.2:c.3153T>C, NM_001318086.1:c.3153T>C, XM_011531536.4:c.3189T>C, XM_011531536.3:c.3189T>C, XM_011531536.2:c.3189T>C, XM_011531536.1:c.3189T>C, XM_011531537.4:c.3180T>C, XM_011531537.3:c.3180T>C, XM_011531537.2:c.3180T>C, XM_011531537.1:c.3180T>C, XM_011531540.4:c.1656T>C, XM_011531540.3:c.1656T>C, XM_011531540.2:c.1656T>C, XM_011531540.1:c.1656T>C, XM_017007652.3:c.2973T>C, XM_017007652.2:c.2973T>C, XM_017007652.1:c.2973T>C, XM_047449512.1:c.3177T>C, XM_047449514.1:c.3084T>C, XM_047449515.1:c.3075T>C, XM_047449516.1:c.3072T>C, XM_047449513.1:c.3111T>C, XM_047449517.1:c.3006T>C, XM_047449518.1:c.3003T>C, XM_047449519.1:c.2970T>C, XM_047449520.1:c.2823T>C, XM_047449521.1:c.2820T>C

          5.

          rs1487350337 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:109494698 (GRCh38)
            4:110415854 (GRCh37)
            Canonical SPDI:
            NC_000004.12:109494697:G:A
            Gene:
            SEC24B (Varview)
            Functional Consequence:
            missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.109494698G>A, NC_000004.11:g.110415854G>A, NG_032166.1:g.65884G>A, NM_006323.5:c.1330G>A, NM_006323.4:c.1330G>A, NM_006323.3:c.1330G>A, NM_006323.2:c.1330G>A, NM_001042734.4:c.1225G>A, NM_001042734.3:c.1225G>A, NM_001042734.2:c.1225G>A, NM_001042734.1:c.1225G>A, NM_001300813.3:c.1423G>A, NM_001300813.2:c.1423G>A, NM_001300813.1:c.1423G>A, NM_001318085.2:c.1330G>A, NM_001318085.1:c.1330G>A, NM_001318086.2:c.1225G>A, NM_001318086.1:c.1225G>A, XM_011531536.4:c.1258G>A, XM_011531536.3:c.1258G>A, XM_011531536.2:c.1258G>A, XM_011531536.1:c.1258G>A, XM_011531537.4:c.1249G>A, XM_011531537.3:c.1249G>A, XM_011531537.2:c.1249G>A, XM_011531537.1:c.1249G>A, XM_017007652.3:c.1042G>A, XM_017007652.2:c.1042G>A, XM_017007652.1:c.1042G>A, XM_047449512.1:c.1249G>A, XM_047449514.1:c.1153G>A, XM_047449515.1:c.1144G>A, XM_047449516.1:c.1144G>A, XM_047449513.1:c.1180G>A, XM_047449517.1:c.1075G>A, XM_047449518.1:c.1075G>A, XM_047449519.1:c.1042G>A, XM_047449520.1:c.892G>A, XM_047449521.1:c.892G>A, NP_006314.2:p.Ala444Thr, NP_001036199.1:p.Ala409Thr, NP_001287742.1:p.Ala475Thr, NP_001305014.1:p.Ala444Thr, NP_001305015.1:p.Ala409Thr, XP_011529838.1:p.Ala420Thr, XP_011529839.1:p.Ala417Thr, XP_016863141.1:p.Ala348Thr, XP_047305468.1:p.Ala417Thr, XP_047305470.1:p.Ala385Thr, XP_047305471.1:p.Ala382Thr, XP_047305472.1:p.Ala382Thr, XP_047305469.1:p.Ala394Thr, XP_047305473.1:p.Ala359Thr, XP_047305474.1:p.Ala359Thr, XP_047305475.1:p.Ala348Thr, XP_047305476.1:p.Ala298Thr, XP_047305477.1:p.Ala298Thr

            6.

            rs1486705642 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              4:109516558 (GRCh38)
              4:110437714 (GRCh37)
              Canonical SPDI:
              NC_000004.12:109516557:T:C
              Gene:
              SEC24B (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000004.12:g.109516558T>C, NC_000004.11:g.110437714T>C, NG_032166.1:g.87744T>C, NM_006323.5:c.2044T>C, NM_006323.4:c.2044T>C, NM_006323.3:c.2044T>C, NM_006323.2:c.2044T>C, NM_001042734.4:c.1939T>C, NM_001042734.3:c.1939T>C, NM_001042734.2:c.1939T>C, NM_001042734.1:c.1939T>C, NM_001300813.3:c.2134T>C, NM_001300813.2:c.2134T>C, NM_001300813.1:c.2134T>C, NM_001318085.2:c.2041T>C, NM_001318085.1:c.2041T>C, NM_001318086.2:c.1936T>C, NM_001318086.1:c.1936T>C, XM_011531536.4:c.1972T>C, XM_011531536.3:c.1972T>C, XM_011531536.2:c.1972T>C, XM_011531536.1:c.1972T>C, XM_011531537.4:c.1963T>C, XM_011531537.3:c.1963T>C, XM_011531537.2:c.1963T>C, XM_011531537.1:c.1963T>C, XM_011531540.4:c.439T>C, XM_011531540.3:c.439T>C, XM_011531540.2:c.439T>C, XM_011531540.1:c.439T>C, XM_017007652.3:c.1756T>C, XM_017007652.2:c.1756T>C, XM_017007652.1:c.1756T>C, XM_047449512.1:c.1960T>C, XM_047449514.1:c.1867T>C, XM_047449515.1:c.1858T>C, XM_047449516.1:c.1855T>C, XM_047449513.1:c.1894T>C, XM_047449517.1:c.1789T>C, XM_047449518.1:c.1786T>C, XM_047449519.1:c.1753T>C, XM_047449520.1:c.1606T>C, XM_047449521.1:c.1603T>C, NP_006314.2:p.Phe682Leu, NP_001036199.1:p.Phe647Leu, NP_001287742.1:p.Phe712Leu, NP_001305014.1:p.Phe681Leu, NP_001305015.1:p.Phe646Leu, XP_011529838.1:p.Phe658Leu, XP_011529839.1:p.Phe655Leu, XP_011529842.1:p.Phe147Leu, XP_016863141.1:p.Phe586Leu, XP_047305468.1:p.Phe654Leu, XP_047305470.1:p.Phe623Leu, XP_047305471.1:p.Phe620Leu, XP_047305472.1:p.Phe619Leu, XP_047305469.1:p.Phe632Leu, XP_047305473.1:p.Phe597Leu, XP_047305474.1:p.Phe596Leu, XP_047305475.1:p.Phe585Leu, XP_047305476.1:p.Phe536Leu, XP_047305477.1:p.Phe535Leu

              7.

              rs1486663879 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                4:109463319 (GRCh38)
                4:110384475 (GRCh37)
                Canonical SPDI:
                NC_000004.12:109463318:T:A,NC_000004.12:109463318:T:C
                Gene:
                SEC24B (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000004.12:g.109463319T>A, NC_000004.12:g.109463319T>C, NC_000004.11:g.110384475T>A, NC_000004.11:g.110384475T>C, NG_032166.1:g.34505T>A, NG_032166.1:g.34505T>C, NM_006323.5:c.552T>A, NM_006323.5:c.552T>C, NM_006323.4:c.552T>A, NM_006323.4:c.552T>C, NM_006323.3:c.552T>A, NM_006323.3:c.552T>C, NM_006323.2:c.552T>A, NM_006323.2:c.552T>C, NM_001042734.4:c.552T>A, NM_001042734.4:c.552T>C, NM_001042734.3:c.552T>A, NM_001042734.3:c.552T>C, NM_001042734.2:c.552T>A, NM_001042734.2:c.552T>C, NM_001042734.1:c.552T>A, NM_001042734.1:c.552T>C, NM_001300813.3:c.645T>A, NM_001300813.3:c.645T>C, NM_001300813.2:c.645T>A, NM_001300813.2:c.645T>C, NM_001300813.1:c.645T>A, NM_001300813.1:c.645T>C, NM_001318085.2:c.552T>A, NM_001318085.2:c.552T>C, NM_001318085.1:c.552T>A, NM_001318085.1:c.552T>C, NM_001318086.2:c.552T>A, NM_001318086.2:c.552T>C, NM_001318086.1:c.552T>A, NM_001318086.1:c.552T>C, XM_011531536.4:c.480T>A, XM_011531536.4:c.480T>C, XM_011531536.3:c.480T>A, XM_011531536.3:c.480T>C, XM_011531536.2:c.480T>A, XM_011531536.2:c.480T>C, XM_011531536.1:c.480T>A, XM_011531536.1:c.480T>C, XM_011531537.4:c.471T>A, XM_011531537.4:c.471T>C, XM_011531537.3:c.471T>A, XM_011531537.3:c.471T>C, XM_011531537.2:c.471T>A, XM_011531537.2:c.471T>C, XM_011531537.1:c.471T>A, XM_011531537.1:c.471T>C, XM_017007652.3:c.552T>A, XM_017007652.3:c.552T>C, XM_017007652.2:c.552T>A, XM_017007652.2:c.552T>C, XM_017007652.1:c.552T>A, XM_017007652.1:c.552T>C, XM_047449512.1:c.471T>A, XM_047449512.1:c.471T>C, XM_047449514.1:c.480T>A, XM_047449514.1:c.480T>C, XM_047449515.1:c.471T>A, XM_047449515.1:c.471T>C, XM_047449516.1:c.471T>A, XM_047449516.1:c.471T>C, XM_047449513.1:c.402T>A, XM_047449513.1:c.402T>C, XM_047449517.1:c.402T>A, XM_047449517.1:c.402T>C, XM_047449518.1:c.402T>A, XM_047449518.1:c.402T>C, XM_047449519.1:c.552T>A, XM_047449519.1:c.552T>C, XM_047449520.1:c.402T>A, XM_047449520.1:c.402T>C, XM_047449521.1:c.402T>A, XM_047449521.1:c.402T>C

                8.

                rs1486339842 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  4:109520443 (GRCh38)
                  4:110441599 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:109520442:G:A
                  Gene:
                  SEC24B (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000004.12:g.109520443G>A, NC_000004.11:g.110441599G>A, NG_032166.1:g.91629G>A, NM_006323.5:c.2204G>A, NM_006323.4:c.2204G>A, NM_006323.3:c.2204G>A, NM_006323.2:c.2204G>A, NM_001042734.4:c.2099G>A, NM_001042734.3:c.2099G>A, NM_001042734.2:c.2099G>A, NM_001042734.1:c.2099G>A, NM_001300813.3:c.2294G>A, NM_001300813.2:c.2294G>A, NM_001300813.1:c.2294G>A, NM_001318085.2:c.2201G>A, NM_001318085.1:c.2201G>A, NM_001318086.2:c.2096G>A, NM_001318086.1:c.2096G>A, XM_011531536.4:c.2132G>A, XM_011531536.3:c.2132G>A, XM_011531536.2:c.2132G>A, XM_011531536.1:c.2132G>A, XM_011531537.4:c.2123G>A, XM_011531537.3:c.2123G>A, XM_011531537.2:c.2123G>A, XM_011531537.1:c.2123G>A, XM_011531540.4:c.599G>A, XM_011531540.3:c.599G>A, XM_011531540.2:c.599G>A, XM_011531540.1:c.599G>A, XM_017007652.3:c.1916G>A, XM_017007652.2:c.1916G>A, XM_017007652.1:c.1916G>A, XM_047449512.1:c.2120G>A, XM_047449514.1:c.2027G>A, XM_047449515.1:c.2018G>A, XM_047449516.1:c.2015G>A, XM_047449513.1:c.2054G>A, XM_047449517.1:c.1949G>A, XM_047449518.1:c.1946G>A, XM_047449519.1:c.1913G>A, XM_047449520.1:c.1766G>A, XM_047449521.1:c.1763G>A, NP_006314.2:p.Gly735Glu, NP_001036199.1:p.Gly700Glu, NP_001287742.1:p.Gly765Glu, NP_001305014.1:p.Gly734Glu, NP_001305015.1:p.Gly699Glu, XP_011529838.1:p.Gly711Glu, XP_011529839.1:p.Gly708Glu, XP_011529842.1:p.Gly200Glu, XP_016863141.1:p.Gly639Glu, XP_047305468.1:p.Gly707Glu, XP_047305470.1:p.Gly676Glu, XP_047305471.1:p.Gly673Glu, XP_047305472.1:p.Gly672Glu, XP_047305469.1:p.Gly685Glu, XP_047305473.1:p.Gly650Glu, XP_047305474.1:p.Gly649Glu, XP_047305475.1:p.Gly638Glu, XP_047305476.1:p.Gly589Glu, XP_047305477.1:p.Gly588Glu

                  9.

                  rs1485691194 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    4:109463388 (GRCh38)
                    4:110384544 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:109463387:T:C
                    Gene:
                    SEC24B (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000043/1 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    C=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.109463388T>C, NC_000004.11:g.110384544T>C, NG_032166.1:g.34574T>C, NM_006323.5:c.621T>C, NM_006323.4:c.621T>C, NM_006323.3:c.621T>C, NM_006323.2:c.621T>C, NM_001042734.4:c.621T>C, NM_001042734.3:c.621T>C, NM_001042734.2:c.621T>C, NM_001042734.1:c.621T>C, NM_001300813.3:c.714T>C, NM_001300813.2:c.714T>C, NM_001300813.1:c.714T>C, NM_001318085.2:c.621T>C, NM_001318085.1:c.621T>C, NM_001318086.2:c.621T>C, NM_001318086.1:c.621T>C, XM_011531536.4:c.549T>C, XM_011531536.3:c.549T>C, XM_011531536.2:c.549T>C, XM_011531536.1:c.549T>C, XM_011531537.4:c.540T>C, XM_011531537.3:c.540T>C, XM_011531537.2:c.540T>C, XM_011531537.1:c.540T>C, XM_017007652.3:c.621T>C, XM_017007652.2:c.621T>C, XM_017007652.1:c.621T>C, XM_047449512.1:c.540T>C, XM_047449514.1:c.549T>C, XM_047449515.1:c.540T>C, XM_047449516.1:c.540T>C, XM_047449513.1:c.471T>C, XM_047449517.1:c.471T>C, XM_047449518.1:c.471T>C, XM_047449519.1:c.621T>C, XM_047449520.1:c.471T>C, XM_047449521.1:c.471T>C

                    10.

                    rs1485036409 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      4:109449424 (GRCh38)
                      4:110370580 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:109449423:A:G,NC_000004.12:109449423:A:T
                      Gene:
                      SEC24B (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,5_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.00008/1 (ALFA)
                      T=0.00001/1 (GnomAD_exomes)
                      G=0.01953/57 (KOREAN)
                      HGVS:
                      NC_000004.12:g.109449424A>G, NC_000004.12:g.109449424A>T, NC_000004.11:g.110370580A>G, NC_000004.11:g.110370580A>T, NG_032166.1:g.20610A>G, NG_032166.1:g.20610A>T, NM_001300813.3:c.141A>G, NM_001300813.3:c.141A>T, NM_001300813.2:c.141A>G, NM_001300813.2:c.141A>T, NM_001300813.1:c.141A>G, NM_001300813.1:c.141A>T, XM_011531536.4:c.-170A>G, XM_011531536.4:c.-170A>T, XM_011531537.4:c.-172A>G, XM_011531537.4:c.-172A>T, XM_047449512.1:c.-172A>G, XM_047449512.1:c.-172A>T, XM_047449514.1:c.-170A>G, XM_047449514.1:c.-170A>T, XM_047449515.1:c.-172A>G, XM_047449515.1:c.-172A>T, XM_047449516.1:c.-172A>G, XM_047449516.1:c.-172A>T, XM_047449513.1:c.-103A>G, XM_047449513.1:c.-103A>T, XM_047449517.1:c.-103A>G, XM_047449517.1:c.-103A>T, XM_047449518.1:c.-103A>G, XM_047449518.1:c.-103A>T, XM_047449520.1:c.-103A>G, XM_047449520.1:c.-103A>T, XM_047449521.1:c.-103A>G, XM_047449521.1:c.-103A>T

                      11.

                      rs1483442294 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        4:109506444 (GRCh38)
                        4:110427600 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:109506443:T:A
                        Gene:
                        SEC24B (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,synonymous_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_000004.12:g.109506444T>A, NC_000004.11:g.110427600T>A, NG_032166.1:g.77630T>A, NM_006323.5:c.1605T>A, NM_006323.4:c.1605T>A, NM_006323.3:c.1605T>A, NM_006323.2:c.1605T>A, NM_001042734.4:c.1500T>A, NM_001042734.3:c.1500T>A, NM_001042734.2:c.1500T>A, NM_001042734.1:c.1500T>A, NM_001300813.3:c.1695T>A, NM_001300813.2:c.1695T>A, NM_001300813.1:c.1695T>A, NM_001318085.2:c.1602T>A, NM_001318085.1:c.1602T>A, NM_001318086.2:c.1497T>A, NM_001318086.1:c.1497T>A, XM_011531536.4:c.1533T>A, XM_011531536.3:c.1533T>A, XM_011531536.2:c.1533T>A, XM_011531536.1:c.1533T>A, XM_011531537.4:c.1524T>A, XM_011531537.3:c.1524T>A, XM_011531537.2:c.1524T>A, XM_011531537.1:c.1524T>A, XM_011531540.4:c.-1T>A, XM_011531540.3:c.-1T>A, XM_011531540.2:c.-1T>A, XM_011531540.1:c.-1T>A, XM_017007652.3:c.1317T>A, XM_017007652.2:c.1317T>A, XM_017007652.1:c.1317T>A, XM_047449512.1:c.1521T>A, XM_047449514.1:c.1428T>A, XM_047449515.1:c.1419T>A, XM_047449516.1:c.1416T>A, XM_047449513.1:c.1455T>A, XM_047449517.1:c.1350T>A, XM_047449518.1:c.1347T>A, XM_047449519.1:c.1314T>A, XM_047449520.1:c.1167T>A, XM_047449521.1:c.1164T>A

                        12.

                        rs1483084953 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          4:109521552 (GRCh38)
                          4:110442708 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:109521551:C:G
                          Gene:
                          SEC24B (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.00003/1 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.109521552C>G, NC_000004.11:g.110442708C>G, NG_032166.1:g.92738C>G, NM_006323.5:c.2434C>G, NM_006323.4:c.2434C>G, NM_006323.3:c.2434C>G, NM_006323.2:c.2434C>G, NM_001042734.4:c.2329C>G, NM_001042734.3:c.2329C>G, NM_001042734.2:c.2329C>G, NM_001042734.1:c.2329C>G, NM_001300813.3:c.2524C>G, NM_001300813.2:c.2524C>G, NM_001300813.1:c.2524C>G, NM_001318085.2:c.2431C>G, NM_001318085.1:c.2431C>G, NM_001318086.2:c.2326C>G, NM_001318086.1:c.2326C>G, XM_011531536.4:c.2362C>G, XM_011531536.3:c.2362C>G, XM_011531536.2:c.2362C>G, XM_011531536.1:c.2362C>G, XM_011531537.4:c.2353C>G, XM_011531537.3:c.2353C>G, XM_011531537.2:c.2353C>G, XM_011531537.1:c.2353C>G, XM_011531540.4:c.829C>G, XM_011531540.3:c.829C>G, XM_011531540.2:c.829C>G, XM_011531540.1:c.829C>G, XM_017007652.3:c.2146C>G, XM_017007652.2:c.2146C>G, XM_017007652.1:c.2146C>G, XM_047449512.1:c.2350C>G, XM_047449514.1:c.2257C>G, XM_047449515.1:c.2248C>G, XM_047449516.1:c.2245C>G, XM_047449513.1:c.2284C>G, XM_047449517.1:c.2179C>G, XM_047449518.1:c.2176C>G, XM_047449519.1:c.2143C>G, XM_047449520.1:c.1996C>G, XM_047449521.1:c.1993C>G, NP_006314.2:p.Gln812Glu, NP_001036199.1:p.Gln777Glu, NP_001287742.1:p.Gln842Glu, NP_001305014.1:p.Gln811Glu, NP_001305015.1:p.Gln776Glu, XP_011529838.1:p.Gln788Glu, XP_011529839.1:p.Gln785Glu, XP_011529842.1:p.Gln277Glu, XP_016863141.1:p.Gln716Glu, XP_047305468.1:p.Gln784Glu, XP_047305470.1:p.Gln753Glu, XP_047305471.1:p.Gln750Glu, XP_047305472.1:p.Gln749Glu, XP_047305469.1:p.Gln762Glu, XP_047305473.1:p.Gln727Glu, XP_047305474.1:p.Gln726Glu, XP_047305475.1:p.Gln715Glu, XP_047305476.1:p.Gln666Glu, XP_047305477.1:p.Gln665Glu

                          13.

                          rs1482629167 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:109533673 (GRCh38)
                            4:110454829 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:109533672:A:G
                            Gene:
                            SEC24B (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.109533673A>G, NC_000004.11:g.110454829A>G, NG_032166.1:g.104859A>G, NM_006323.5:c.3576A>G, NM_006323.4:c.3576A>G, NM_006323.3:c.3576A>G, NM_006323.2:c.3576A>G, NM_001042734.4:c.3471A>G, NM_001042734.3:c.3471A>G, NM_001042734.2:c.3471A>G, NM_001042734.1:c.3471A>G, NM_001300813.3:c.3666A>G, NM_001300813.2:c.3666A>G, NM_001300813.1:c.3666A>G, NM_001318085.2:c.3573A>G, NM_001318085.1:c.3573A>G, NM_001318086.2:c.3468A>G, NM_001318086.1:c.3468A>G, XM_011531536.4:c.3504A>G, XM_011531536.3:c.3504A>G, XM_011531536.2:c.3504A>G, XM_011531536.1:c.3504A>G, XM_011531537.4:c.3495A>G, XM_011531537.3:c.3495A>G, XM_011531537.2:c.3495A>G, XM_011531537.1:c.3495A>G, XM_011531540.4:c.1971A>G, XM_011531540.3:c.1971A>G, XM_011531540.2:c.1971A>G, XM_011531540.1:c.1971A>G, XM_017007652.3:c.3288A>G, XM_017007652.2:c.3288A>G, XM_017007652.1:c.3288A>G, XM_047449512.1:c.3492A>G, XM_047449514.1:c.3399A>G, XM_047449515.1:c.3390A>G, XM_047449516.1:c.3387A>G, XM_047449513.1:c.3426A>G, XM_047449517.1:c.3321A>G, XM_047449518.1:c.3318A>G, XM_047449519.1:c.3285A>G, XM_047449520.1:c.3138A>G, XM_047449521.1:c.3135A>G, NP_006314.2:p.Ile1192Met, NP_001036199.1:p.Ile1157Met, NP_001287742.1:p.Ile1222Met, NP_001305014.1:p.Ile1191Met, NP_001305015.1:p.Ile1156Met, XP_011529838.1:p.Ile1168Met, XP_011529839.1:p.Ile1165Met, XP_011529842.1:p.Ile657Met, XP_016863141.1:p.Ile1096Met, XP_047305468.1:p.Ile1164Met, XP_047305470.1:p.Ile1133Met, XP_047305471.1:p.Ile1130Met, XP_047305472.1:p.Ile1129Met, XP_047305469.1:p.Ile1142Met, XP_047305473.1:p.Ile1107Met, XP_047305474.1:p.Ile1106Met, XP_047305475.1:p.Ile1095Met, XP_047305476.1:p.Ile1046Met, XP_047305477.1:p.Ile1045Met

                            14.

                            rs1482527510 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              4:109530448 (GRCh38)
                              4:110451604 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:109530447:T:C
                              Gene:
                              SEC24B (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              C=0.000342/1 (KOREAN)
                              HGVS:
                              NC_000004.12:g.109530448T>C, NC_000004.11:g.110451604T>C, NG_032166.1:g.101634T>C, NM_006323.5:c.3236T>C, NM_006323.4:c.3236T>C, NM_006323.3:c.3236T>C, NM_006323.2:c.3236T>C, NM_001042734.4:c.3131T>C, NM_001042734.3:c.3131T>C, NM_001042734.2:c.3131T>C, NM_001042734.1:c.3131T>C, NM_001300813.3:c.3326T>C, NM_001300813.2:c.3326T>C, NM_001300813.1:c.3326T>C, NM_001318085.2:c.3233T>C, NM_001318085.1:c.3233T>C, NM_001318086.2:c.3128T>C, NM_001318086.1:c.3128T>C, XM_011531536.4:c.3164T>C, XM_011531536.3:c.3164T>C, XM_011531536.2:c.3164T>C, XM_011531536.1:c.3164T>C, XM_011531537.4:c.3155T>C, XM_011531537.3:c.3155T>C, XM_011531537.2:c.3155T>C, XM_011531537.1:c.3155T>C, XM_011531540.4:c.1631T>C, XM_011531540.3:c.1631T>C, XM_011531540.2:c.1631T>C, XM_011531540.1:c.1631T>C, XM_017007652.3:c.2948T>C, XM_017007652.2:c.2948T>C, XM_017007652.1:c.2948T>C, XM_047449512.1:c.3152T>C, XM_047449514.1:c.3059T>C, XM_047449515.1:c.3050T>C, XM_047449516.1:c.3047T>C, XM_047449513.1:c.3086T>C, XM_047449517.1:c.2981T>C, XM_047449518.1:c.2978T>C, XM_047449519.1:c.2945T>C, XM_047449520.1:c.2798T>C, XM_047449521.1:c.2795T>C, NP_006314.2:p.Leu1079Ser, NP_001036199.1:p.Leu1044Ser, NP_001287742.1:p.Leu1109Ser, NP_001305014.1:p.Leu1078Ser, NP_001305015.1:p.Leu1043Ser, XP_011529838.1:p.Leu1055Ser, XP_011529839.1:p.Leu1052Ser, XP_011529842.1:p.Leu544Ser, XP_016863141.1:p.Leu983Ser, XP_047305468.1:p.Leu1051Ser, XP_047305470.1:p.Leu1020Ser, XP_047305471.1:p.Leu1017Ser, XP_047305472.1:p.Leu1016Ser, XP_047305469.1:p.Leu1029Ser, XP_047305473.1:p.Leu994Ser, XP_047305474.1:p.Leu993Ser, XP_047305475.1:p.Leu982Ser, XP_047305476.1:p.Leu933Ser, XP_047305477.1:p.Leu932Ser

                              15.

                              rs1482484224 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:109516587 (GRCh38)
                                4:110437743 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:109516586:G:A
                                Gene:
                                SEC24B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.109516587G>A, NC_000004.11:g.110437743G>A, NG_032166.1:g.87773G>A, NM_006323.5:c.2073G>A, NM_006323.4:c.2073G>A, NM_006323.3:c.2073G>A, NM_006323.2:c.2073G>A, NM_001042734.4:c.1968G>A, NM_001042734.3:c.1968G>A, NM_001042734.2:c.1968G>A, NM_001042734.1:c.1968G>A, NM_001300813.3:c.2163G>A, NM_001300813.2:c.2163G>A, NM_001300813.1:c.2163G>A, NM_001318085.2:c.2070G>A, NM_001318085.1:c.2070G>A, NM_001318086.2:c.1965G>A, NM_001318086.1:c.1965G>A, XM_011531536.4:c.2001G>A, XM_011531536.3:c.2001G>A, XM_011531536.2:c.2001G>A, XM_011531536.1:c.2001G>A, XM_011531537.4:c.1992G>A, XM_011531537.3:c.1992G>A, XM_011531537.2:c.1992G>A, XM_011531537.1:c.1992G>A, XM_011531540.4:c.468G>A, XM_011531540.3:c.468G>A, XM_011531540.2:c.468G>A, XM_011531540.1:c.468G>A, XM_017007652.3:c.1785G>A, XM_017007652.2:c.1785G>A, XM_017007652.1:c.1785G>A, XM_047449512.1:c.1989G>A, XM_047449514.1:c.1896G>A, XM_047449515.1:c.1887G>A, XM_047449516.1:c.1884G>A, XM_047449513.1:c.1923G>A, XM_047449517.1:c.1818G>A, XM_047449518.1:c.1815G>A, XM_047449519.1:c.1782G>A, XM_047449520.1:c.1635G>A, XM_047449521.1:c.1632G>A

                                16.

                                rs1482408379 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  4:109463344 (GRCh38)
                                  4:110384500 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:109463343:T:G
                                  Gene:
                                  SEC24B (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.109463344T>G, NC_000004.11:g.110384500T>G, NG_032166.1:g.34530T>G, NM_006323.5:c.577T>G, NM_006323.4:c.577T>G, NM_006323.3:c.577T>G, NM_006323.2:c.577T>G, NM_001042734.4:c.577T>G, NM_001042734.3:c.577T>G, NM_001042734.2:c.577T>G, NM_001042734.1:c.577T>G, NM_001300813.3:c.670T>G, NM_001300813.2:c.670T>G, NM_001300813.1:c.670T>G, NM_001318085.2:c.577T>G, NM_001318085.1:c.577T>G, NM_001318086.2:c.577T>G, NM_001318086.1:c.577T>G, XM_011531536.4:c.505T>G, XM_011531536.3:c.505T>G, XM_011531536.2:c.505T>G, XM_011531536.1:c.505T>G, XM_011531537.4:c.496T>G, XM_011531537.3:c.496T>G, XM_011531537.2:c.496T>G, XM_011531537.1:c.496T>G, XM_017007652.3:c.577T>G, XM_017007652.2:c.577T>G, XM_017007652.1:c.577T>G, XM_047449512.1:c.496T>G, XM_047449514.1:c.505T>G, XM_047449515.1:c.496T>G, XM_047449516.1:c.496T>G, XM_047449513.1:c.427T>G, XM_047449517.1:c.427T>G, XM_047449518.1:c.427T>G, XM_047449519.1:c.577T>G, XM_047449520.1:c.427T>G, XM_047449521.1:c.427T>G, NP_006314.2:p.Tyr193Asp, NP_001036199.1:p.Tyr193Asp, NP_001287742.1:p.Tyr224Asp, NP_001305014.1:p.Tyr193Asp, NP_001305015.1:p.Tyr193Asp, XP_011529838.1:p.Tyr169Asp, XP_011529839.1:p.Tyr166Asp, XP_016863141.1:p.Tyr193Asp, XP_047305468.1:p.Tyr166Asp, XP_047305470.1:p.Tyr169Asp, XP_047305471.1:p.Tyr166Asp, XP_047305472.1:p.Tyr166Asp, XP_047305469.1:p.Tyr143Asp, XP_047305473.1:p.Tyr143Asp, XP_047305474.1:p.Tyr143Asp, XP_047305475.1:p.Tyr193Asp, XP_047305476.1:p.Tyr143Asp, XP_047305477.1:p.Tyr143Asp

                                  17.

                                  rs1481022103 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    4:109463541 (GRCh38)
                                    4:110384697 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:109463540:T:A
                                    Gene:
                                    SEC24B (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.109463541T>A, NC_000004.11:g.110384697T>A, NG_032166.1:g.34727T>A, NM_006323.5:c.774T>A, NM_006323.4:c.774T>A, NM_006323.3:c.774T>A, NM_006323.2:c.774T>A, NM_001042734.4:c.774T>A, NM_001042734.3:c.774T>A, NM_001042734.2:c.774T>A, NM_001042734.1:c.774T>A, NM_001300813.3:c.867T>A, NM_001300813.2:c.867T>A, NM_001300813.1:c.867T>A, NM_001318085.2:c.774T>A, NM_001318085.1:c.774T>A, NM_001318086.2:c.774T>A, NM_001318086.1:c.774T>A, XM_011531536.4:c.702T>A, XM_011531536.3:c.702T>A, XM_011531536.2:c.702T>A, XM_011531536.1:c.702T>A, XM_011531537.4:c.693T>A, XM_011531537.3:c.693T>A, XM_011531537.2:c.693T>A, XM_011531537.1:c.693T>A, XM_017007652.3:c.774T>A, XM_017007652.2:c.774T>A, XM_017007652.1:c.774T>A, XM_047449512.1:c.693T>A, XM_047449514.1:c.702T>A, XM_047449515.1:c.693T>A, XM_047449516.1:c.693T>A, XM_047449513.1:c.624T>A, XM_047449517.1:c.624T>A, XM_047449518.1:c.624T>A, XM_047449519.1:c.774T>A, XM_047449520.1:c.624T>A, XM_047449521.1:c.624T>A, NP_006314.2:p.Ser258Arg, NP_001036199.1:p.Ser258Arg, NP_001287742.1:p.Ser289Arg, NP_001305014.1:p.Ser258Arg, NP_001305015.1:p.Ser258Arg, XP_011529838.1:p.Ser234Arg, XP_011529839.1:p.Ser231Arg, XP_016863141.1:p.Ser258Arg, XP_047305468.1:p.Ser231Arg, XP_047305470.1:p.Ser234Arg, XP_047305471.1:p.Ser231Arg, XP_047305472.1:p.Ser231Arg, XP_047305469.1:p.Ser208Arg, XP_047305473.1:p.Ser208Arg, XP_047305474.1:p.Ser208Arg, XP_047305475.1:p.Ser258Arg, XP_047305476.1:p.Ser208Arg, XP_047305477.1:p.Ser208Arg

                                    18.

                                    rs1478626959 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      4:109525389 (GRCh38)
                                      4:110446545 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:109525388:A:G,NC_000004.12:109525388:A:T
                                      Gene:
                                      SEC24B (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.109525389A>G, NC_000004.12:g.109525389A>T, NC_000004.11:g.110446545A>G, NC_000004.11:g.110446545A>T, NG_032166.1:g.96575A>G, NG_032166.1:g.96575A>T, NM_006323.5:c.2676A>G, NM_006323.5:c.2676A>T, NM_006323.4:c.2676A>G, NM_006323.4:c.2676A>T, NM_006323.3:c.2676A>G, NM_006323.3:c.2676A>T, NM_006323.2:c.2676A>G, NM_006323.2:c.2676A>T, NM_001042734.4:c.2571A>G, NM_001042734.4:c.2571A>T, NM_001042734.3:c.2571A>G, NM_001042734.3:c.2571A>T, NM_001042734.2:c.2571A>G, NM_001042734.2:c.2571A>T, NM_001042734.1:c.2571A>G, NM_001042734.1:c.2571A>T, NM_001300813.3:c.2766A>G, NM_001300813.3:c.2766A>T, NM_001300813.2:c.2766A>G, NM_001300813.2:c.2766A>T, NM_001300813.1:c.2766A>G, NM_001300813.1:c.2766A>T, NM_001318085.2:c.2673A>G, NM_001318085.2:c.2673A>T, NM_001318085.1:c.2673A>G, NM_001318085.1:c.2673A>T, NM_001318086.2:c.2568A>G, NM_001318086.2:c.2568A>T, NM_001318086.1:c.2568A>G, NM_001318086.1:c.2568A>T, XM_011531536.4:c.2604A>G, XM_011531536.4:c.2604A>T, XM_011531536.3:c.2604A>G, XM_011531536.3:c.2604A>T, XM_011531536.2:c.2604A>G, XM_011531536.2:c.2604A>T, XM_011531536.1:c.2604A>G, XM_011531536.1:c.2604A>T, XM_011531537.4:c.2595A>G, XM_011531537.4:c.2595A>T, XM_011531537.3:c.2595A>G, XM_011531537.3:c.2595A>T, XM_011531537.2:c.2595A>G, XM_011531537.2:c.2595A>T, XM_011531537.1:c.2595A>G, XM_011531537.1:c.2595A>T, XM_011531540.4:c.1071A>G, XM_011531540.4:c.1071A>T, XM_011531540.3:c.1071A>G, XM_011531540.3:c.1071A>T, XM_011531540.2:c.1071A>G, XM_011531540.2:c.1071A>T, XM_011531540.1:c.1071A>G, XM_011531540.1:c.1071A>T, XM_017007652.3:c.2388A>G, XM_017007652.3:c.2388A>T, XM_017007652.2:c.2388A>G, XM_017007652.2:c.2388A>T, XM_017007652.1:c.2388A>G, XM_017007652.1:c.2388A>T, XM_047449512.1:c.2592A>G, XM_047449512.1:c.2592A>T, XM_047449514.1:c.2499A>G, XM_047449514.1:c.2499A>T, XM_047449515.1:c.2490A>G, XM_047449515.1:c.2490A>T, XM_047449516.1:c.2487A>G, XM_047449516.1:c.2487A>T, XM_047449513.1:c.2526A>G, XM_047449513.1:c.2526A>T, XM_047449517.1:c.2421A>G, XM_047449517.1:c.2421A>T, XM_047449518.1:c.2418A>G, XM_047449518.1:c.2418A>T, XM_047449519.1:c.2385A>G, XM_047449519.1:c.2385A>T, XM_047449520.1:c.2238A>G, XM_047449520.1:c.2238A>T, XM_047449521.1:c.2235A>G, XM_047449521.1:c.2235A>T

                                      19.

                                      rs1478123842 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:109531412 (GRCh38)
                                        4:110452568 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:109531411:C:T
                                        Gene:
                                        SEC24B (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000066/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000029/4 (GnomAD)
                                        T=0.000223/1 (Estonian)
                                        HGVS:
                                        NC_000004.12:g.109531412C>T, NC_000004.11:g.110452568C>T, NG_032166.1:g.102598C>T, NM_006323.5:c.3280C>T, NM_006323.4:c.3280C>T, NM_006323.3:c.3280C>T, NM_006323.2:c.3280C>T, NM_001042734.4:c.3175C>T, NM_001042734.3:c.3175C>T, NM_001042734.2:c.3175C>T, NM_001042734.1:c.3175C>T, NM_001300813.3:c.3370C>T, NM_001300813.2:c.3370C>T, NM_001300813.1:c.3370C>T, NM_001318085.2:c.3277C>T, NM_001318085.1:c.3277C>T, NM_001318086.2:c.3172C>T, NM_001318086.1:c.3172C>T, XM_011531536.4:c.3208C>T, XM_011531536.3:c.3208C>T, XM_011531536.2:c.3208C>T, XM_011531536.1:c.3208C>T, XM_011531537.4:c.3199C>T, XM_011531537.3:c.3199C>T, XM_011531537.2:c.3199C>T, XM_011531537.1:c.3199C>T, XM_011531540.4:c.1675C>T, XM_011531540.3:c.1675C>T, XM_011531540.2:c.1675C>T, XM_011531540.1:c.1675C>T, XM_017007652.3:c.2992C>T, XM_017007652.2:c.2992C>T, XM_017007652.1:c.2992C>T, XM_047449512.1:c.3196C>T, XM_047449514.1:c.3103C>T, XM_047449515.1:c.3094C>T, XM_047449516.1:c.3091C>T, XM_047449513.1:c.3130C>T, XM_047449517.1:c.3025C>T, XM_047449518.1:c.3022C>T, XM_047449519.1:c.2989C>T, XM_047449520.1:c.2842C>T, XM_047449521.1:c.2839C>T, NP_006314.2:p.Arg1094Trp, NP_001036199.1:p.Arg1059Trp, NP_001287742.1:p.Arg1124Trp, NP_001305014.1:p.Arg1093Trp, NP_001305015.1:p.Arg1058Trp, XP_011529838.1:p.Arg1070Trp, XP_011529839.1:p.Arg1067Trp, XP_011529842.1:p.Arg559Trp, XP_016863141.1:p.Arg998Trp, XP_047305468.1:p.Arg1066Trp, XP_047305470.1:p.Arg1035Trp, XP_047305471.1:p.Arg1032Trp, XP_047305472.1:p.Arg1031Trp, XP_047305469.1:p.Arg1044Trp, XP_047305473.1:p.Arg1009Trp, XP_047305474.1:p.Arg1008Trp, XP_047305475.1:p.Arg997Trp, XP_047305476.1:p.Arg948Trp, XP_047305477.1:p.Arg947Trp

                                        20.

                                        rs1477525598 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:109433881 (GRCh38)
                                          4:110355037 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:109433880:C:T
                                          Gene:
                                          SEC24B (Varview), SEC24B-AS1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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