U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 565

1.

rs1489805866 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G,T [Show Flanks]
    Chromosome:
    1:200650491 (GRCh38)
    1:200619619 (GRCh37)
    Canonical SPDI:
    NC_000001.11:200650490:A:G,NC_000001.11:200650490:A:T
    Gene:
    DDX59 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000031/1 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.200650491A>G, NC_000001.11:g.200650491A>T, NC_000001.10:g.200619619A>G, NC_000001.10:g.200619619A>T, NG_053192.1:g.24508T>C, NG_053192.1:g.24508T>A, NM_001031725.6:c.1248T>C, NM_001031725.6:c.1248T>A, NM_001031725.5:c.1248T>C, NM_001031725.5:c.1248T>A, NM_001031725.4:c.1248T>C, NM_001031725.4:c.1248T>A, NM_001349799.3:c.1248T>C, NM_001349799.3:c.1248T>A, NM_001349799.2:c.1248T>C, NM_001349799.2:c.1248T>A, NM_001349799.1:c.1248T>C, NM_001349799.1:c.1248T>A, NM_001349800.3:c.1248T>C, NM_001349800.3:c.1248T>A, NM_001349800.2:c.1248T>C, NM_001349800.2:c.1248T>A, NM_001349800.1:c.1248T>C, NM_001349800.1:c.1248T>A, NM_001349802.3:c.1248T>C, NM_001349802.3:c.1248T>A, NM_001349802.2:c.1248T>C, NM_001349802.2:c.1248T>A, NM_001349802.1:c.1248T>C, NM_001349802.1:c.1248T>A, NM_001349801.3:c.1248T>C, NM_001349801.3:c.1248T>A, NM_001349801.2:c.1248T>C, NM_001349801.2:c.1248T>A, NM_001349801.1:c.1248T>C, NM_001349801.1:c.1248T>A, NM_001320181.2:c.1248T>C, NM_001320181.2:c.1248T>A, NM_001320181.1:c.1248T>C, NM_001320181.1:c.1248T>A, XM_017002432.3:c.1248T>C, XM_017002432.3:c.1248T>A, XM_017002432.2:c.1248T>C, XM_017002432.2:c.1248T>A, XM_017002432.1:c.1248T>C, XM_017002432.1:c.1248T>A, NM_031306.2:c.1248T>C, NM_031306.2:c.1248T>A, XM_047431458.1:c.1248T>C, XM_047431458.1:c.1248T>A, XM_047431461.1:c.1248T>C, XM_047431461.1:c.1248T>A, XM_047431459.1:c.1248T>C, XM_047431459.1:c.1248T>A, NM_031306.1:c.1248T>C, NM_031306.1:c.1248T>A, NP_001026895.2:p.Asn416Lys, NP_001336728.1:p.Asn416Lys, NP_001336729.1:p.Asn416Lys, NP_001336731.1:p.Asn416Lys, NP_001336730.1:p.Asn416Lys, NP_001307110.1:p.Asn416Lys, XP_016857921.1:p.Asn416Lys, XP_047287414.1:p.Asn416Lys, XP_047287417.1:p.Asn416Lys, XP_047287415.1:p.Asn416Lys

    2.

    rs1486080104 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      1:200648536 (GRCh38)
      1:200617664 (GRCh37)
      Canonical SPDI:
      NC_000001.11:200648535:A:G
      Gene:
      DDX59 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.200648536A>G, NC_000001.10:g.200617664A>G, NG_053192.1:g.26463T>C, NM_001031725.6:c.1499T>C, NM_001031725.5:c.1499T>C, NM_001031725.4:c.1499T>C, NM_001349799.3:c.1499T>C, NM_001349799.2:c.1499T>C, NM_001349799.1:c.1499T>C, NM_001349800.3:c.1499T>C, NM_001349800.2:c.1499T>C, NM_001349800.1:c.1499T>C, NM_001349802.3:c.1499T>C, NM_001349802.2:c.1499T>C, NM_001349802.1:c.1499T>C, NM_001349803.3:c.1247T>C, NM_001349803.2:c.1247T>C, NM_001349803.1:c.1247T>C, NM_001320181.2:c.1499T>C, NM_001320181.1:c.1499T>C, NM_001320182.1:c.1157T>C, XM_017002432.3:c.1499T>C, XM_017002432.2:c.1499T>C, XM_017002432.1:c.1499T>C, NM_031306.2:c.1499T>C, XM_047431461.1:c.1499T>C, XM_047431466.1:c.1247T>C, XM_047431472.1:c.1247T>C, XM_047431471.1:c.1247T>C, XM_047431475.1:c.1247T>C, NM_031306.1:c.1499T>C, NP_001026895.2:p.Val500Ala, NP_001336728.1:p.Val500Ala, NP_001336729.1:p.Val500Ala, NP_001336731.1:p.Val500Ala, NP_001336732.1:p.Val416Ala, NP_001307110.1:p.Val500Ala, NP_001307111.1:p.Val386Ala, XP_016857921.1:p.Val500Ala, XP_047287417.1:p.Val500Ala, XP_047287422.1:p.Val416Ala, XP_047287428.1:p.Val416Ala, XP_047287427.1:p.Val416Ala, XP_047287431.1:p.Val416Ala

      3.

      rs1485647445 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        1:200649208 (GRCh38)
        1:200618336 (GRCh37)
        Canonical SPDI:
        NC_000001.11:200649207:G:A
        Gene:
        DDX59 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        A=0.00001/2 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.200649208G>A, NC_000001.10:g.200618336G>A, NG_053192.1:g.25791C>T, NM_001031725.6:c.1333C>T, NM_001031725.5:c.1333C>T, NM_001031725.4:c.1333C>T, NM_001349799.3:c.1333C>T, NM_001349799.2:c.1333C>T, NM_001349799.1:c.1333C>T, NM_001349800.3:c.1333C>T, NM_001349800.2:c.1333C>T, NM_001349800.1:c.1333C>T, NM_001349802.3:c.1333C>T, NM_001349802.2:c.1333C>T, NM_001349802.1:c.1333C>T, NM_001349801.3:c.1333C>T, NM_001349801.2:c.1333C>T, NM_001349801.1:c.1333C>T, NM_001349803.3:c.1081C>T, NM_001349803.2:c.1081C>T, NM_001349803.1:c.1081C>T, NM_001320181.2:c.1333C>T, NM_001320181.1:c.1333C>T, NM_001320182.1:c.991C>T, XM_017002432.3:c.1333C>T, XM_017002432.2:c.1333C>T, XM_017002432.1:c.1333C>T, NM_031306.2:c.1333C>T, XM_047431458.1:c.1333C>T, XM_047431461.1:c.1333C>T, XM_047431459.1:c.1333C>T, XM_047431466.1:c.1081C>T, XM_047431472.1:c.1081C>T, XM_047431471.1:c.1081C>T, XM_047431475.1:c.1081C>T, XM_047431468.1:c.1081C>T, XM_047431477.1:c.1191C>T, NM_031306.1:c.1333C>T, NP_001026895.2:p.Pro445Ser, NP_001336728.1:p.Pro445Ser, NP_001336729.1:p.Pro445Ser, NP_001336731.1:p.Pro445Ser, NP_001336730.1:p.Pro445Ser, NP_001336732.1:p.Pro361Ser, NP_001307110.1:p.Pro445Ser, NP_001307111.1:p.Pro331Ser, XP_016857921.1:p.Pro445Ser, XP_047287414.1:p.Pro445Ser, XP_047287417.1:p.Pro445Ser, XP_047287415.1:p.Pro445Ser, XP_047287422.1:p.Pro361Ser, XP_047287428.1:p.Pro361Ser, XP_047287427.1:p.Pro361Ser, XP_047287431.1:p.Pro361Ser, XP_047287424.1:p.Pro361Ser

        4.

        rs1483497797 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:200666680 (GRCh38)
          1:200635808 (GRCh37)
          Canonical SPDI:
          NC_000001.11:200666679:C:T
          Gene:
          DDX59 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.200666680C>T, NC_000001.10:g.200635808C>T, NG_053192.1:g.8319G>A, NM_001031725.6:c.61G>A, NM_001031725.5:c.61G>A, NM_001031725.4:c.61G>A, NM_001349799.3:c.61G>A, NM_001349799.2:c.61G>A, NM_001349799.1:c.61G>A, NM_001349800.3:c.61G>A, NM_001349800.2:c.61G>A, NM_001349800.1:c.61G>A, NM_001349802.3:c.61G>A, NM_001349802.2:c.61G>A, NM_001349802.1:c.61G>A, NM_001349801.3:c.61G>A, NM_001349801.2:c.61G>A, NM_001349801.1:c.61G>A, NM_001349803.3:c.61G>A, NM_001349803.2:c.61G>A, NM_001349803.1:c.61G>A, NM_001320181.2:c.61G>A, NM_001320181.1:c.61G>A, NM_001349804.2:c.61G>A, NM_001349804.1:c.61G>A, NM_001320182.1:c.61G>A, XM_017002432.3:c.61G>A, XM_017002432.2:c.61G>A, XM_017002432.1:c.61G>A, NM_031306.2:c.61G>A, XM_047431458.1:c.61G>A, XM_047431461.1:c.61G>A, XM_047431459.1:c.61G>A, XM_047431466.1:c.61G>A, XM_047431472.1:c.61G>A, XM_047431471.1:c.61G>A, XM_047431475.1:c.61G>A, XM_047431468.1:c.61G>A, XM_047431477.1:c.61G>A, XM_047431480.1:c.61G>A, NM_031306.1:c.61G>A, NP_001026895.2:p.Val21Met, NP_001336728.1:p.Val21Met, NP_001336729.1:p.Val21Met, NP_001336731.1:p.Val21Met, NP_001336730.1:p.Val21Met, NP_001336732.1:p.Val21Met, NP_001307110.1:p.Val21Met, NP_001336733.1:p.Val21Met, NP_001307111.1:p.Val21Met, XP_016857921.1:p.Val21Met, XP_047287414.1:p.Val21Met, XP_047287417.1:p.Val21Met, XP_047287415.1:p.Val21Met, XP_047287422.1:p.Val21Met, XP_047287428.1:p.Val21Met, XP_047287427.1:p.Val21Met, XP_047287431.1:p.Val21Met, XP_047287424.1:p.Val21Met, XP_047287433.1:p.Val21Met, XP_047287436.1:p.Val21Met

          5.

          rs1482504831 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            1:200666188 (GRCh38)
            1:200635316 (GRCh37)
            Canonical SPDI:
            NC_000001.11:200666187:G:C
            Gene:
            DDX59 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000001.11:g.200666188G>C, NC_000001.10:g.200635316G>C, NG_053192.1:g.8811C>G, NM_001031725.6:c.553C>G, NM_001031725.5:c.553C>G, NM_001031725.4:c.553C>G, NM_001349799.3:c.553C>G, NM_001349799.2:c.553C>G, NM_001349799.1:c.553C>G, NM_001349800.3:c.553C>G, NM_001349800.2:c.553C>G, NM_001349800.1:c.553C>G, NM_001349802.3:c.553C>G, NM_001349802.2:c.553C>G, NM_001349802.1:c.553C>G, NM_001349801.3:c.553C>G, NM_001349801.2:c.553C>G, NM_001349801.1:c.553C>G, NM_001349803.3:c.553C>G, NM_001349803.2:c.553C>G, NM_001349803.1:c.553C>G, NM_001320181.2:c.553C>G, NM_001320181.1:c.553C>G, NM_001349804.2:c.553C>G, NM_001349804.1:c.553C>G, NM_001320182.1:c.553C>G, XM_017002432.3:c.553C>G, XM_017002432.2:c.553C>G, XM_017002432.1:c.553C>G, NM_031306.2:c.553C>G, XM_047431458.1:c.553C>G, XM_047431461.1:c.553C>G, XM_047431459.1:c.553C>G, XM_047431466.1:c.553C>G, XM_047431472.1:c.553C>G, XM_047431471.1:c.553C>G, XM_047431475.1:c.553C>G, XM_047431468.1:c.553C>G, XM_047431477.1:c.553C>G, XM_047431480.1:c.553C>G, NM_031306.1:c.553C>G, NP_001026895.2:p.Leu185Val, NP_001336728.1:p.Leu185Val, NP_001336729.1:p.Leu185Val, NP_001336731.1:p.Leu185Val, NP_001336730.1:p.Leu185Val, NP_001336732.1:p.Leu185Val, NP_001307110.1:p.Leu185Val, NP_001336733.1:p.Leu185Val, NP_001307111.1:p.Leu185Val, XP_016857921.1:p.Leu185Val, XP_047287414.1:p.Leu185Val, XP_047287417.1:p.Leu185Val, XP_047287415.1:p.Leu185Val, XP_047287422.1:p.Leu185Val, XP_047287428.1:p.Leu185Val, XP_047287427.1:p.Leu185Val, XP_047287431.1:p.Leu185Val, XP_047287424.1:p.Leu185Val, XP_047287433.1:p.Leu185Val, XP_047287436.1:p.Leu185Val

            6.

            rs1481400452 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              1:200666696 (GRCh38)
              1:200635824 (GRCh37)
              Canonical SPDI:
              NC_000001.11:200666695:A:G
              Gene:
              DDX59 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000071/1 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000001.11:g.200666696A>G, NC_000001.10:g.200635824A>G, NG_053192.1:g.8303T>C, NM_001031725.6:c.45T>C, NM_001031725.5:c.45T>C, NM_001031725.4:c.45T>C, NM_001349799.3:c.45T>C, NM_001349799.2:c.45T>C, NM_001349799.1:c.45T>C, NM_001349800.3:c.45T>C, NM_001349800.2:c.45T>C, NM_001349800.1:c.45T>C, NM_001349802.3:c.45T>C, NM_001349802.2:c.45T>C, NM_001349802.1:c.45T>C, NM_001349801.3:c.45T>C, NM_001349801.2:c.45T>C, NM_001349801.1:c.45T>C, NM_001349803.3:c.45T>C, NM_001349803.2:c.45T>C, NM_001349803.1:c.45T>C, NM_001320181.2:c.45T>C, NM_001320181.1:c.45T>C, NM_001349804.2:c.45T>C, NM_001349804.1:c.45T>C, NM_001320182.1:c.45T>C, XM_017002432.3:c.45T>C, XM_017002432.2:c.45T>C, XM_017002432.1:c.45T>C, NM_031306.2:c.45T>C, XM_047431458.1:c.45T>C, XM_047431461.1:c.45T>C, XM_047431459.1:c.45T>C, XM_047431466.1:c.45T>C, XM_047431472.1:c.45T>C, XM_047431471.1:c.45T>C, XM_047431475.1:c.45T>C, XM_047431468.1:c.45T>C, XM_047431477.1:c.45T>C, XM_047431480.1:c.45T>C, NM_031306.1:c.45T>C

              7.

              rs1480977531 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:200644398 (GRCh38)
                1:200613526 (GRCh37)
                Canonical SPDI:
                NC_000001.11:200644397:G:A
                Gene:
                DDX59 (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1480321371 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  1:200648505 (GRCh38)
                  1:200617633 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:200648504:G:A,NC_000001.11:200648504:G:C
                  Gene:
                  DDX59 (Varview)
                  Functional Consequence:
                  missense_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.200648505G>A, NC_000001.11:g.200648505G>C, NC_000001.10:g.200617633G>A, NC_000001.10:g.200617633G>C, NG_053192.1:g.26494C>T, NG_053192.1:g.26494C>G, NM_001031725.6:c.1530C>T, NM_001031725.6:c.1530C>G, NM_001031725.5:c.1530C>T, NM_001031725.5:c.1530C>G, NM_001031725.4:c.1530C>T, NM_001031725.4:c.1530C>G, NM_001349799.3:c.1530C>T, NM_001349799.3:c.1530C>G, NM_001349799.2:c.1530C>T, NM_001349799.2:c.1530C>G, NM_001349799.1:c.1530C>T, NM_001349799.1:c.1530C>G, NM_001349800.3:c.1530C>T, NM_001349800.3:c.1530C>G, NM_001349800.2:c.1530C>T, NM_001349800.2:c.1530C>G, NM_001349800.1:c.1530C>T, NM_001349800.1:c.1530C>G, NM_001349802.3:c.1530C>T, NM_001349802.3:c.1530C>G, NM_001349802.2:c.1530C>T, NM_001349802.2:c.1530C>G, NM_001349802.1:c.1530C>T, NM_001349802.1:c.1530C>G, NM_001349803.3:c.1278C>T, NM_001349803.3:c.1278C>G, NM_001349803.2:c.1278C>T, NM_001349803.2:c.1278C>G, NM_001349803.1:c.1278C>T, NM_001349803.1:c.1278C>G, NM_001320181.2:c.1530C>T, NM_001320181.2:c.1530C>G, NM_001320181.1:c.1530C>T, NM_001320181.1:c.1530C>G, NM_001320182.1:c.1188C>T, NM_001320182.1:c.1188C>G, XM_017002432.3:c.1530C>T, XM_017002432.3:c.1530C>G, XM_017002432.2:c.1530C>T, XM_017002432.2:c.1530C>G, XM_017002432.1:c.1530C>T, XM_017002432.1:c.1530C>G, NM_031306.2:c.1530C>T, NM_031306.2:c.1530C>G, XM_047431461.1:c.1530C>T, XM_047431461.1:c.1530C>G, XM_047431466.1:c.1278C>T, XM_047431466.1:c.1278C>G, XM_047431472.1:c.1278C>T, XM_047431472.1:c.1278C>G, XM_047431471.1:c.1278C>T, XM_047431471.1:c.1278C>G, XM_047431475.1:c.1278C>T, XM_047431475.1:c.1278C>G, NM_031306.1:c.1530C>T, NM_031306.1:c.1530C>G, NP_001026895.2:p.Asp510Glu, NP_001336728.1:p.Asp510Glu, NP_001336729.1:p.Asp510Glu, NP_001336731.1:p.Asp510Glu, NP_001336732.1:p.Asp426Glu, NP_001307110.1:p.Asp510Glu, NP_001307111.1:p.Asp396Glu, XP_016857921.1:p.Asp510Glu, XP_047287417.1:p.Asp510Glu, XP_047287422.1:p.Asp426Glu, XP_047287428.1:p.Asp426Glu, XP_047287427.1:p.Asp426Glu, XP_047287431.1:p.Asp426Glu

                  9.

                  rs1478745976 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:200666024 (GRCh38)
                    1:200635152 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:200666023:C:T
                    Gene:
                    DDX59 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.200666024C>T, NC_000001.10:g.200635152C>T, NG_053192.1:g.8975G>A, NM_001031725.6:c.717G>A, NM_001031725.5:c.717G>A, NM_001031725.4:c.717G>A, NM_001349799.3:c.717G>A, NM_001349799.2:c.717G>A, NM_001349799.1:c.717G>A, NM_001349800.3:c.717G>A, NM_001349800.2:c.717G>A, NM_001349800.1:c.717G>A, NM_001349802.3:c.717G>A, NM_001349802.2:c.717G>A, NM_001349802.1:c.717G>A, NM_001349801.3:c.717G>A, NM_001349801.2:c.717G>A, NM_001349801.1:c.717G>A, NM_001349803.3:c.717G>A, NM_001349803.2:c.717G>A, NM_001349803.1:c.717G>A, NM_001320181.2:c.717G>A, NM_001320181.1:c.717G>A, NM_001349804.2:c.717G>A, NM_001349804.1:c.717G>A, NM_001320182.1:c.717G>A, XM_017002432.3:c.717G>A, XM_017002432.2:c.717G>A, XM_017002432.1:c.717G>A, NM_031306.2:c.717G>A, XM_047431458.1:c.717G>A, XM_047431461.1:c.717G>A, XM_047431459.1:c.717G>A, XM_047431466.1:c.717G>A, XM_047431472.1:c.717G>A, XM_047431471.1:c.717G>A, XM_047431475.1:c.717G>A, XM_047431468.1:c.717G>A, XM_047431477.1:c.717G>A, XM_047431480.1:c.717G>A, NM_031306.1:c.717G>A

                    10.

                    rs1478468854 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:200644281 (GRCh38)
                      1:200613409 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:200644280:T:C
                      Gene:
                      DDX59 (Varview)
                      Functional Consequence:
                      synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                      HGVS:

                      11.

                      rs1478085621 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        1:200666600 (GRCh38)
                        1:200635728 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:200666599:T:C
                        Gene:
                        DDX59 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.200666600T>C, NC_000001.10:g.200635728T>C, NG_053192.1:g.8399A>G, NM_001031725.6:c.141A>G, NM_001031725.5:c.141A>G, NM_001031725.4:c.141A>G, NM_001349799.3:c.141A>G, NM_001349799.2:c.141A>G, NM_001349799.1:c.141A>G, NM_001349800.3:c.141A>G, NM_001349800.2:c.141A>G, NM_001349800.1:c.141A>G, NM_001349802.3:c.141A>G, NM_001349802.2:c.141A>G, NM_001349802.1:c.141A>G, NM_001349801.3:c.141A>G, NM_001349801.2:c.141A>G, NM_001349801.1:c.141A>G, NM_001349803.3:c.141A>G, NM_001349803.2:c.141A>G, NM_001349803.1:c.141A>G, NM_001320181.2:c.141A>G, NM_001320181.1:c.141A>G, NM_001349804.2:c.141A>G, NM_001349804.1:c.141A>G, NM_001320182.1:c.141A>G, XM_017002432.3:c.141A>G, XM_017002432.2:c.141A>G, XM_017002432.1:c.141A>G, NM_031306.2:c.141A>G, XM_047431458.1:c.141A>G, XM_047431461.1:c.141A>G, XM_047431459.1:c.141A>G, XM_047431466.1:c.141A>G, XM_047431472.1:c.141A>G, XM_047431471.1:c.141A>G, XM_047431475.1:c.141A>G, XM_047431468.1:c.141A>G, XM_047431477.1:c.141A>G, XM_047431480.1:c.141A>G, NM_031306.1:c.141A>G

                        12.

                        rs1476597155 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->GG [Show Flanks]
                          Chromosome:
                          1:200666190 (GRCh38)
                          1:200635319 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:200666190::GG
                          Gene:
                          DDX59 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant
                          HGVS:
                          NC_000001.11:g.200666190_200666191insGG, NC_000001.10:g.200635318_200635319insGG, NG_053192.1:g.8808_8809insCC, NM_001031725.6:c.550_551insCC, NM_001031725.5:c.550_551insCC, NM_001031725.4:c.550_551insCC, NM_001349799.3:c.550_551insCC, NM_001349799.2:c.550_551insCC, NM_001349799.1:c.550_551insCC, NM_001349800.3:c.550_551insCC, NM_001349800.2:c.550_551insCC, NM_001349800.1:c.550_551insCC, NM_001349802.3:c.550_551insCC, NM_001349802.2:c.550_551insCC, NM_001349802.1:c.550_551insCC, NM_001349801.3:c.550_551insCC, NM_001349801.2:c.550_551insCC, NM_001349801.1:c.550_551insCC, NM_001349803.3:c.550_551insCC, NM_001349803.2:c.550_551insCC, NM_001349803.1:c.550_551insCC, NM_001320181.2:c.550_551insCC, NM_001320181.1:c.550_551insCC, NM_001349804.2:c.550_551insCC, NM_001349804.1:c.550_551insCC, NM_001320182.1:c.550_551insCC, XM_017002432.3:c.550_551insCC, XM_017002432.2:c.550_551insCC, XM_017002432.1:c.550_551insCC, NM_031306.2:c.550_551insCC, XM_047431458.1:c.550_551insCC, XM_047431461.1:c.550_551insCC, XM_047431459.1:c.550_551insCC, XM_047431466.1:c.550_551insCC, XM_047431472.1:c.550_551insCC, XM_047431471.1:c.550_551insCC, XM_047431475.1:c.550_551insCC, XM_047431468.1:c.550_551insCC, XM_047431477.1:c.550_551insCC, XM_047431480.1:c.550_551insCC, NM_031306.1:c.550_551insCC, NP_001026895.2:p.Asn184fs, NP_001336728.1:p.Asn184fs, NP_001336729.1:p.Asn184fs, NP_001336731.1:p.Asn184fs, NP_001336730.1:p.Asn184fs, NP_001336732.1:p.Asn184fs, NP_001307110.1:p.Asn184fs, NP_001336733.1:p.Asn184fs, NP_001307111.1:p.Asn184fs, XP_016857921.1:p.Asn184fs, XP_047287414.1:p.Asn184fs, XP_047287417.1:p.Asn184fs, XP_047287415.1:p.Asn184fs, XP_047287422.1:p.Asn184fs, XP_047287428.1:p.Asn184fs, XP_047287427.1:p.Asn184fs, XP_047287431.1:p.Asn184fs, XP_047287424.1:p.Asn184fs, XP_047287433.1:p.Asn184fs, XP_047287436.1:p.Asn184fs

                          13.

                          rs1476224108 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:200650631 (GRCh38)
                            1:200619759 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:200650630:T:C
                            Gene:
                            DDX59 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000001.11:g.200650631T>C, NC_000001.10:g.200619759T>C, NG_053192.1:g.24368A>G, NM_001031725.6:c.1108A>G, NM_001031725.5:c.1108A>G, NM_001031725.4:c.1108A>G, NM_001349799.3:c.1108A>G, NM_001349799.2:c.1108A>G, NM_001349799.1:c.1108A>G, NM_001349800.3:c.1108A>G, NM_001349800.2:c.1108A>G, NM_001349800.1:c.1108A>G, NM_001349802.3:c.1108A>G, NM_001349802.2:c.1108A>G, NM_001349802.1:c.1108A>G, NM_001349801.3:c.1108A>G, NM_001349801.2:c.1108A>G, NM_001349801.1:c.1108A>G, NM_001320181.2:c.1108A>G, NM_001320181.1:c.1108A>G, XM_017002432.3:c.1108A>G, XM_017002432.2:c.1108A>G, XM_017002432.1:c.1108A>G, NM_031306.2:c.1108A>G, XM_047431458.1:c.1108A>G, XM_047431461.1:c.1108A>G, XM_047431459.1:c.1108A>G, XM_047431480.1:c.*30A>G, NM_031306.1:c.1108A>G, NP_001026895.2:p.Ile370Val, NP_001336728.1:p.Ile370Val, NP_001336729.1:p.Ile370Val, NP_001336731.1:p.Ile370Val, NP_001336730.1:p.Ile370Val, NP_001307110.1:p.Ile370Val, XP_016857921.1:p.Ile370Val, XP_047287414.1:p.Ile370Val, XP_047287417.1:p.Ile370Val, XP_047287415.1:p.Ile370Val

                            14.

                            rs1470943740 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              1:200664014 (GRCh38)
                              1:200633142 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:200664013:C:A
                              Gene:
                              DDX59 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.200664014C>A, NC_000001.10:g.200633142C>A, NG_053192.1:g.10985G>T, NM_001031725.6:c.877G>T, NM_001031725.5:c.877G>T, NM_001031725.4:c.877G>T, NM_001349799.3:c.877G>T, NM_001349799.2:c.877G>T, NM_001349799.1:c.877G>T, NM_001349800.3:c.877G>T, NM_001349800.2:c.877G>T, NM_001349800.1:c.877G>T, NM_001349802.3:c.877G>T, NM_001349802.2:c.877G>T, NM_001349802.1:c.877G>T, NM_001349801.3:c.877G>T, NM_001349801.2:c.877G>T, NM_001349801.1:c.877G>T, NM_001349803.3:c.877G>T, NM_001349803.2:c.877G>T, NM_001349803.1:c.877G>T, NM_001320181.2:c.877G>T, NM_001320181.1:c.877G>T, NM_001349804.2:c.877G>T, NM_001349804.1:c.877G>T, NM_001320182.1:c.877G>T, XM_017002432.3:c.877G>T, XM_017002432.2:c.877G>T, XM_017002432.1:c.877G>T, NM_031306.2:c.877G>T, XM_047431458.1:c.877G>T, XM_047431461.1:c.877G>T, XM_047431459.1:c.877G>T, XM_047431466.1:c.877G>T, XM_047431472.1:c.877G>T, XM_047431471.1:c.877G>T, XM_047431475.1:c.877G>T, XM_047431468.1:c.877G>T, XM_047431477.1:c.877G>T, XM_047431480.1:c.877G>T, NM_031306.1:c.877G>T, NP_001026895.2:p.Glu293Ter, NP_001336728.1:p.Glu293Ter, NP_001336729.1:p.Glu293Ter, NP_001336731.1:p.Glu293Ter, NP_001336730.1:p.Glu293Ter, NP_001336732.1:p.Glu293Ter, NP_001307110.1:p.Glu293Ter, NP_001336733.1:p.Glu293Ter, NP_001307111.1:p.Glu293Ter, XP_016857921.1:p.Glu293Ter, XP_047287414.1:p.Glu293Ter, XP_047287417.1:p.Glu293Ter, XP_047287415.1:p.Glu293Ter, XP_047287422.1:p.Glu293Ter, XP_047287428.1:p.Glu293Ter, XP_047287427.1:p.Glu293Ter, XP_047287431.1:p.Glu293Ter, XP_047287424.1:p.Glu293Ter, XP_047287433.1:p.Glu293Ter, XP_047287436.1:p.Glu293Ter

                              15.

                              rs1469772919 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                1:200664005 (GRCh38)
                                1:200633133 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:200664004:T:G
                                Gene:
                                DDX59 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000001.11:g.200664005T>G, NC_000001.10:g.200633133T>G, NG_053192.1:g.10994A>C, NM_001031725.6:c.886A>C, NM_001031725.5:c.886A>C, NM_001031725.4:c.886A>C, NM_001349799.3:c.886A>C, NM_001349799.2:c.886A>C, NM_001349799.1:c.886A>C, NM_001349800.3:c.886A>C, NM_001349800.2:c.886A>C, NM_001349800.1:c.886A>C, NM_001349802.3:c.886A>C, NM_001349802.2:c.886A>C, NM_001349802.1:c.886A>C, NM_001349801.3:c.886A>C, NM_001349801.2:c.886A>C, NM_001349801.1:c.886A>C, NM_001349803.3:c.886A>C, NM_001349803.2:c.886A>C, NM_001349803.1:c.886A>C, NM_001320181.2:c.886A>C, NM_001320181.1:c.886A>C, NM_001349804.2:c.886A>C, NM_001349804.1:c.886A>C, NM_001320182.1:c.886A>C, XM_017002432.3:c.886A>C, XM_017002432.2:c.886A>C, XM_017002432.1:c.886A>C, NM_031306.2:c.886A>C, XM_047431458.1:c.886A>C, XM_047431461.1:c.886A>C, XM_047431459.1:c.886A>C, XM_047431466.1:c.886A>C, XM_047431472.1:c.886A>C, XM_047431471.1:c.886A>C, XM_047431475.1:c.886A>C, XM_047431468.1:c.886A>C, XM_047431477.1:c.886A>C, XM_047431480.1:c.886A>C, NM_031306.1:c.886A>C, NP_001026895.2:p.Ser296Arg, NP_001336728.1:p.Ser296Arg, NP_001336729.1:p.Ser296Arg, NP_001336731.1:p.Ser296Arg, NP_001336730.1:p.Ser296Arg, NP_001336732.1:p.Ser296Arg, NP_001307110.1:p.Ser296Arg, NP_001336733.1:p.Ser296Arg, NP_001307111.1:p.Ser296Arg, XP_016857921.1:p.Ser296Arg, XP_047287414.1:p.Ser296Arg, XP_047287417.1:p.Ser296Arg, XP_047287415.1:p.Ser296Arg, XP_047287422.1:p.Ser296Arg, XP_047287428.1:p.Ser296Arg, XP_047287427.1:p.Ser296Arg, XP_047287431.1:p.Ser296Arg, XP_047287424.1:p.Ser296Arg, XP_047287433.1:p.Ser296Arg, XP_047287436.1:p.Ser296Arg

                                16.

                                rs1469613988 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  1:200650501 (GRCh38)
                                  1:200619629 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:200650500:G:A
                                  Gene:
                                  DDX59 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.200650501G>A, NC_000001.10:g.200619629G>A, NG_053192.1:g.24498C>T, NM_001031725.6:c.1238C>T, NM_001031725.5:c.1238C>T, NM_001031725.4:c.1238C>T, NM_001349799.3:c.1238C>T, NM_001349799.2:c.1238C>T, NM_001349799.1:c.1238C>T, NM_001349800.3:c.1238C>T, NM_001349800.2:c.1238C>T, NM_001349800.1:c.1238C>T, NM_001349802.3:c.1238C>T, NM_001349802.2:c.1238C>T, NM_001349802.1:c.1238C>T, NM_001349801.3:c.1238C>T, NM_001349801.2:c.1238C>T, NM_001349801.1:c.1238C>T, NM_001320181.2:c.1238C>T, NM_001320181.1:c.1238C>T, XM_017002432.3:c.1238C>T, XM_017002432.2:c.1238C>T, XM_017002432.1:c.1238C>T, NM_031306.2:c.1238C>T, XM_047431458.1:c.1238C>T, XM_047431461.1:c.1238C>T, XM_047431459.1:c.1238C>T, NM_031306.1:c.1238C>T, NP_001026895.2:p.Pro413Leu, NP_001336728.1:p.Pro413Leu, NP_001336729.1:p.Pro413Leu, NP_001336731.1:p.Pro413Leu, NP_001336730.1:p.Pro413Leu, NP_001307110.1:p.Pro413Leu, XP_016857921.1:p.Pro413Leu, XP_047287414.1:p.Pro413Leu, XP_047287417.1:p.Pro413Leu, XP_047287415.1:p.Pro413Leu

                                  17.

                                  rs1469467910 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    1:200644456 (GRCh38)
                                    1:200613584 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:200644455:G:A
                                    Gene:
                                    DDX59 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.200644456G>A, NC_000001.10:g.200613584G>A, NG_053192.1:g.30543C>T, NM_001031725.6:c.1658C>T, NM_001031725.5:c.1658C>T, NM_001031725.4:c.1658C>T, NM_001349799.3:c.1658C>T, NM_001349799.2:c.1658C>T, NM_001349799.1:c.1658C>T, NM_001349800.3:c.1658C>T, NM_001349800.2:c.1658C>T, NM_001349800.1:c.1658C>T, NM_001349801.3:c.1529C>T, NM_001349801.2:c.1529C>T, NM_001349801.1:c.1529C>T, NM_001349803.3:c.1406C>T, NM_001349803.2:c.1406C>T, NM_001349803.1:c.1406C>T, NM_001349804.2:c.1124C>T, NM_001349804.1:c.1124C>T, NM_001320182.1:c.1316C>T, XM_017002432.3:c.1658C>T, XM_017002432.2:c.1658C>T, XM_017002432.1:c.1658C>T, XM_047431458.1:c.1529C>T, XM_047431459.1:c.1529C>T, XM_047431466.1:c.1406C>T, XM_047431468.1:c.1277C>T, NP_001026895.2:p.Ser553Leu, NP_001336728.1:p.Ser553Leu, NP_001336729.1:p.Ser553Leu, NP_001336730.1:p.Ser510Leu, NP_001336732.1:p.Ser469Leu, NP_001336733.1:p.Ser375Leu, NP_001307111.1:p.Ser439Leu, XP_016857921.1:p.Ser553Leu, XP_047287414.1:p.Ser510Leu, XP_047287415.1:p.Ser510Leu, XP_047287422.1:p.Ser469Leu, XP_047287424.1:p.Ser426Leu

                                    18.

                                    rs1466124009 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      1:200666553 (GRCh38)
                                      1:200635681 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:200666552:G:A
                                      Gene:
                                      DDX59 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000001.11:g.200666553G>A, NC_000001.10:g.200635681G>A, NG_053192.1:g.8446C>T, NM_001031725.6:c.188C>T, NM_001031725.5:c.188C>T, NM_001031725.4:c.188C>T, NM_001349799.3:c.188C>T, NM_001349799.2:c.188C>T, NM_001349799.1:c.188C>T, NM_001349800.3:c.188C>T, NM_001349800.2:c.188C>T, NM_001349800.1:c.188C>T, NM_001349802.3:c.188C>T, NM_001349802.2:c.188C>T, NM_001349802.1:c.188C>T, NM_001349801.3:c.188C>T, NM_001349801.2:c.188C>T, NM_001349801.1:c.188C>T, NM_001349803.3:c.188C>T, NM_001349803.2:c.188C>T, NM_001349803.1:c.188C>T, NM_001320181.2:c.188C>T, NM_001320181.1:c.188C>T, NM_001349804.2:c.188C>T, NM_001349804.1:c.188C>T, NM_001320182.1:c.188C>T, XM_017002432.3:c.188C>T, XM_017002432.2:c.188C>T, XM_017002432.1:c.188C>T, NM_031306.2:c.188C>T, XM_047431458.1:c.188C>T, XM_047431461.1:c.188C>T, XM_047431459.1:c.188C>T, XM_047431466.1:c.188C>T, XM_047431472.1:c.188C>T, XM_047431471.1:c.188C>T, XM_047431475.1:c.188C>T, XM_047431468.1:c.188C>T, XM_047431477.1:c.188C>T, XM_047431480.1:c.188C>T, NM_031306.1:c.188C>T, NP_001026895.2:p.Pro63Leu, NP_001336728.1:p.Pro63Leu, NP_001336729.1:p.Pro63Leu, NP_001336731.1:p.Pro63Leu, NP_001336730.1:p.Pro63Leu, NP_001336732.1:p.Pro63Leu, NP_001307110.1:p.Pro63Leu, NP_001336733.1:p.Pro63Leu, NP_001307111.1:p.Pro63Leu, XP_016857921.1:p.Pro63Leu, XP_047287414.1:p.Pro63Leu, XP_047287417.1:p.Pro63Leu, XP_047287415.1:p.Pro63Leu, XP_047287422.1:p.Pro63Leu, XP_047287428.1:p.Pro63Leu, XP_047287427.1:p.Pro63Leu, XP_047287431.1:p.Pro63Leu, XP_047287424.1:p.Pro63Leu, XP_047287433.1:p.Pro63Leu, XP_047287436.1:p.Pro63Leu

                                      19.

                                      rs1465808055 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        1:200648486 (GRCh38)
                                        1:200617614 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:200648485:C:A
                                        Gene:
                                        DDX59 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.200648486C>A, NC_000001.10:g.200617614C>A, NG_053192.1:g.26513G>T, NM_001031725.6:c.1549G>T, NM_001031725.5:c.1549G>T, NM_001031725.4:c.1549G>T, NM_001349799.3:c.1549G>T, NM_001349799.2:c.1549G>T, NM_001349799.1:c.1549G>T, NM_001349800.3:c.1549G>T, NM_001349800.2:c.1549G>T, NM_001349800.1:c.1549G>T, NM_001349802.3:c.1549G>T, NM_001349802.2:c.1549G>T, NM_001349802.1:c.1549G>T, NM_001349803.3:c.1297G>T, NM_001349803.2:c.1297G>T, NM_001349803.1:c.1297G>T, NM_001320181.2:c.1549G>T, NM_001320181.1:c.1549G>T, NM_001320182.1:c.1207G>T, XM_017002432.3:c.1549G>T, XM_017002432.2:c.1549G>T, XM_017002432.1:c.1549G>T, NM_031306.2:c.1549G>T, XM_047431461.1:c.1549G>T, XM_047431466.1:c.1297G>T, XM_047431472.1:c.1297G>T, XM_047431471.1:c.1297G>T, XM_047431475.1:c.1297G>T, NM_031306.1:c.1549G>T, NP_001026895.2:p.Val517Phe, NP_001336728.1:p.Val517Phe, NP_001336729.1:p.Val517Phe, NP_001336731.1:p.Val517Phe, NP_001336732.1:p.Val433Phe, NP_001307110.1:p.Val517Phe, NP_001307111.1:p.Val403Phe, XP_016857921.1:p.Val517Phe, XP_047287417.1:p.Val517Phe, XP_047287422.1:p.Val433Phe, XP_047287428.1:p.Val433Phe, XP_047287427.1:p.Val433Phe, XP_047287431.1:p.Val433Phe

                                        20.

                                        rs1465768021 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:200649171 (GRCh38)
                                          1:200618299 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:200649170:G:A
                                          Gene:
                                          DDX59 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.00042/7 (TOMMO)
                                          HGVS:
                                          NC_000001.11:g.200649171G>A, NC_000001.10:g.200618299G>A, NG_053192.1:g.25828C>T, NM_001031725.6:c.1370C>T, NM_001031725.5:c.1370C>T, NM_001031725.4:c.1370C>T, NM_001349799.3:c.1370C>T, NM_001349799.2:c.1370C>T, NM_001349799.1:c.1370C>T, NM_001349800.3:c.1370C>T, NM_001349800.2:c.1370C>T, NM_001349800.1:c.1370C>T, NM_001349802.3:c.1370C>T, NM_001349802.2:c.1370C>T, NM_001349802.1:c.1370C>T, NM_001349801.3:c.1370C>T, NM_001349801.2:c.1370C>T, NM_001349801.1:c.1370C>T, NM_001349803.3:c.1118C>T, NM_001349803.2:c.1118C>T, NM_001349803.1:c.1118C>T, NM_001320181.2:c.1370C>T, NM_001320181.1:c.1370C>T, NM_001320182.1:c.1028C>T, XM_017002432.3:c.1370C>T, XM_017002432.2:c.1370C>T, XM_017002432.1:c.1370C>T, NM_031306.2:c.1370C>T, XM_047431458.1:c.1370C>T, XM_047431461.1:c.1370C>T, XM_047431459.1:c.1370C>T, XM_047431466.1:c.1118C>T, XM_047431472.1:c.1118C>T, XM_047431471.1:c.1118C>T, XM_047431475.1:c.1118C>T, XM_047431468.1:c.1118C>T, XM_047431477.1:c.*25C>T, NM_031306.1:c.1370C>T, NP_001026895.2:p.Ala457Val, NP_001336728.1:p.Ala457Val, NP_001336729.1:p.Ala457Val, NP_001336731.1:p.Ala457Val, NP_001336730.1:p.Ala457Val, NP_001336732.1:p.Ala373Val, NP_001307110.1:p.Ala457Val, NP_001307111.1:p.Ala343Val, XP_016857921.1:p.Ala457Val, XP_047287414.1:p.Ala457Val, XP_047287417.1:p.Ala457Val, XP_047287415.1:p.Ala457Val, XP_047287422.1:p.Ala373Val, XP_047287428.1:p.Ala373Val, XP_047287427.1:p.Ala373Val, XP_047287431.1:p.Ala373Val, XP_047287424.1:p.Ala373Val

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...