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Items: 1 to 20 of 376

1.

rs1489815835 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:63714008 (GRCh38)
    17:61791368 (GRCh37)
    Canonical SPDI:
    NC_000017.11:63714007:A:G
    Gene:
    STRADA (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000017.11:g.63714008A>G, NC_000017.10:g.61791368A>G, NG_015817.1:g.32963T>C, NM_153335.6:c.113T>C, NM_153335.5:c.113T>C, NM_001003787.4:c.224T>C, NM_001003787.3:c.224T>C, NM_001003787.2:c.224T>C, NM_001003788.3:c.50T>C, NM_001003788.2:c.50T>C, NM_001003786.3:c.113T>C, NM_001003786.2:c.113T>C, NM_001165969.2:c.137T>C, NM_001165969.1:c.137T>C, NR_156741.2:n.327T>C, NR_156741.1:n.514T>C, NM_001363786.1:c.200T>C, NM_001363787.1:c.137T>C, NM_001363788.1:c.224T>C, NM_001363791.1:c.50T>C, NM_001363790.1:c.50T>C, NM_001363789.1:c.113T>C, XM_005257801.6:c.224T>C, XM_005257803.6:c.224T>C, XM_011525466.4:c.224T>C, XM_011525466.3:c.224T>C, XM_011525466.2:c.224T>C, XM_011525466.1:c.224T>C, XM_017025314.3:c.137T>C, XM_047437052.1:c.119T>C, NM_001411083.1:c.224T>C, NM_001411084.1:c.137T>C, NM_001411085.1:c.224T>C, XM_047437053.1:c.137T>C, XM_047437055.1:c.113T>C, XM_047437054.1:c.50T>C, XM_047437059.1:c.113T>C, XM_047437056.1:c.224T>C, XM_047437057.1:c.137T>C, XM_047437058.1:c.113T>C, NP_699166.2:p.Ile38Thr, NP_001003787.1:p.Ile75Thr, NP_001003788.1:p.Ile17Thr, NP_001003786.1:p.Ile38Thr, NP_001159441.1:p.Ile46Thr, NP_001350715.1:p.Ile67Thr, NP_001350716.1:p.Ile46Thr, NP_001350717.1:p.Ile75Thr, NP_001350720.1:p.Ile17Thr, NP_001350719.1:p.Ile17Thr, NP_001350718.1:p.Ile38Thr, XP_005257858.1:p.Ile75Thr, XP_005257860.1:p.Ile75Thr, XP_011523768.1:p.Ile75Thr, XP_016880803.1:p.Ile46Thr, XP_047293008.1:p.Ile40Thr, XP_047293009.1:p.Ile46Thr, XP_047293011.1:p.Ile38Thr, XP_047293010.1:p.Ile17Thr, XP_047293015.1:p.Ile38Thr, XP_047293012.1:p.Ile75Thr, XP_047293013.1:p.Ile46Thr, XP_047293014.1:p.Ile38Thr

    2.

    rs1486764668 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:63707268 (GRCh38)
      17:61784628 (GRCh37)
      Canonical SPDI:
      NC_000017.11:63707267:G:A
      Gene:
      STRADA (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000017.11:g.63707268G>A, NC_000017.10:g.61784628G>A, NG_015817.1:g.39703C>T, NM_153335.6:c.621C>T, NM_153335.5:c.621C>T, NM_001003787.4:c.732C>T, NM_001003787.3:c.732C>T, NM_001003787.2:c.732C>T, NM_001003788.3:c.558C>T, NM_001003788.2:c.558C>T, NM_001003786.3:c.621C>T, NM_001003786.2:c.621C>T, NM_001165969.2:c.645C>T, NM_001165969.1:c.645C>T, NM_001165970.2:c.600C>T, NM_001165970.1:c.600C>T, NM_001363786.1:c.708C>T, NM_001363787.1:c.645C>T, NM_001363788.1:c.732C>T, NM_001363791.1:c.558C>T, NM_001363790.1:c.558C>T, NM_001363789.1:c.621C>T, XM_005257801.6:c.732C>T, XM_011525466.4:c.732C>T, XM_011525466.3:c.732C>T, XM_011525466.2:c.732C>T, XM_011525466.1:c.732C>T, XM_017025314.3:c.645C>T, XM_047437052.1:c.627C>T, NM_001411083.1:c.732C>T, NM_001411084.1:c.645C>T, XM_047437053.1:c.645C>T, XM_047437055.1:c.621C>T, XM_047437054.1:c.558C>T, XM_047437059.1:c.621C>T, XM_047437056.1:c.732C>T, XM_047437057.1:c.645C>T, XM_047437058.1:c.621C>T

      3.

      rs1485688235 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        17:63704581 (GRCh38)
        17:61781941 (GRCh37)
        Canonical SPDI:
        NC_000017.11:63704580:A:T
        Gene:
        STRADA (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.63704581A>T, NC_000017.10:g.61781941A>T, NG_015817.1:g.42390T>A, NM_153335.6:c.749T>A, NM_153335.5:c.749T>A, NM_001003787.4:c.860T>A, NM_001003787.3:c.860T>A, NM_001003787.2:c.860T>A, NM_001003788.3:c.686T>A, NM_001003788.2:c.686T>A, NM_001003786.3:c.749T>A, NM_001003786.2:c.749T>A, NM_001165969.2:c.773T>A, NM_001165969.1:c.773T>A, NM_001165970.2:c.728T>A, NM_001165970.1:c.728T>A, NR_156741.2:n.791T>A, NR_156741.1:n.978T>A, NM_001363786.1:c.836T>A, NM_001363787.1:c.773T>A, NM_001363788.1:c.860T>A, NM_001363791.1:c.686T>A, NM_001363790.1:c.686T>A, NM_001363789.1:c.749T>A, XM_005257801.6:c.*298T>A, XM_005257803.6:c.*309T>A, XM_011525466.4:c.860T>A, XM_011525466.3:c.860T>A, XM_011525466.2:c.860T>A, XM_011525466.1:c.860T>A, XM_017025314.3:c.*298T>A, XM_047437052.1:c.755T>A, NM_001411083.1:c.*298T>A, NM_001411084.1:c.*298T>A, NM_001411085.1:c.*309T>A, XM_047437053.1:c.773T>A, XM_047437055.1:c.749T>A, XM_047437054.1:c.686T>A, XM_047437059.1:c.*298T>A, XM_047437056.1:c.860T>A, XM_047437057.1:c.773T>A, XM_047437058.1:c.749T>A, NP_699166.2:p.Met250Lys, NP_001003787.1:p.Met287Lys, NP_001003788.1:p.Met229Lys, NP_001003786.1:p.Met250Lys, NP_001159441.1:p.Met258Lys, NP_001159442.1:p.Met243Lys, NP_001350715.1:p.Met279Lys, NP_001350716.1:p.Met258Lys, NP_001350717.1:p.Met287Lys, NP_001350720.1:p.Met229Lys, NP_001350719.1:p.Met229Lys, NP_001350718.1:p.Met250Lys, XP_011523768.1:p.Met287Lys, XP_047293008.1:p.Met252Lys, XP_047293009.1:p.Met258Lys, XP_047293011.1:p.Met250Lys, XP_047293010.1:p.Met229Lys, XP_047293012.1:p.Met287Lys, XP_047293013.1:p.Met258Lys, XP_047293014.1:p.Met250Lys

        4.

        rs1485280687 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          17:63704557 (GRCh38)
          17:61781917 (GRCh37)
          Canonical SPDI:
          NC_000017.11:63704556:G:C
          Gene:
          STRADA (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
          HGVS:
          NC_000017.11:g.63704557G>C, NC_000017.10:g.61781917G>C, NG_015817.1:g.42414C>G, NM_153335.6:c.773C>G, NM_153335.5:c.773C>G, NM_001003787.4:c.884C>G, NM_001003787.3:c.884C>G, NM_001003787.2:c.884C>G, NM_001003788.3:c.710C>G, NM_001003788.2:c.710C>G, NM_001003786.3:c.773C>G, NM_001003786.2:c.773C>G, NM_001165969.2:c.797C>G, NM_001165969.1:c.797C>G, NM_001165970.2:c.752C>G, NM_001165970.1:c.752C>G, NR_156741.2:n.815C>G, NR_156741.1:n.1002C>G, NM_001363786.1:c.860C>G, NM_001363787.1:c.797C>G, NM_001363788.1:c.884C>G, NM_001363791.1:c.710C>G, NM_001363790.1:c.710C>G, NM_001363789.1:c.773C>G, XM_005257801.6:c.*322C>G, XM_005257803.6:c.*333C>G, XM_011525466.4:c.884C>G, XM_011525466.3:c.884C>G, XM_011525466.2:c.884C>G, XM_011525466.1:c.884C>G, XM_017025314.3:c.*322C>G, XM_047437052.1:c.779C>G, NM_001411083.1:c.*322C>G, NM_001411084.1:c.*322C>G, NM_001411085.1:c.*333C>G, XM_047437053.1:c.797C>G, XM_047437055.1:c.773C>G, XM_047437054.1:c.710C>G, XM_047437059.1:c.*322C>G, XM_047437056.1:c.884C>G, XM_047437057.1:c.797C>G, XM_047437058.1:c.773C>G, NP_699166.2:p.Thr258Arg, NP_001003787.1:p.Thr295Arg, NP_001003788.1:p.Thr237Arg, NP_001003786.1:p.Thr258Arg, NP_001159441.1:p.Thr266Arg, NP_001159442.1:p.Thr251Arg, NP_001350715.1:p.Thr287Arg, NP_001350716.1:p.Thr266Arg, NP_001350717.1:p.Thr295Arg, NP_001350720.1:p.Thr237Arg, NP_001350719.1:p.Thr237Arg, NP_001350718.1:p.Thr258Arg, XP_011523768.1:p.Thr295Arg, XP_047293008.1:p.Thr260Arg, XP_047293009.1:p.Thr266Arg, XP_047293011.1:p.Thr258Arg, XP_047293010.1:p.Thr237Arg, XP_047293012.1:p.Thr295Arg, XP_047293013.1:p.Thr266Arg, XP_047293014.1:p.Thr258Arg

          5.

          rs1484962852 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:63706644 (GRCh38)
            17:61784004 (GRCh37)
            Canonical SPDI:
            NC_000017.11:63706643:A:C
            Gene:
            STRADA (Varview)
            Functional Consequence:
            synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000017.11:g.63706644A>C, NC_000017.10:g.61784004A>C, NG_015817.1:g.40327T>G, NM_153335.6:c.738T>G, NM_153335.5:c.738T>G, NM_001003787.4:c.849T>G, NM_001003787.3:c.849T>G, NM_001003787.2:c.849T>G, NM_001003788.3:c.675T>G, NM_001003788.2:c.675T>G, NM_001003786.3:c.738T>G, NM_001003786.2:c.738T>G, NM_001165969.2:c.762T>G, NM_001165969.1:c.762T>G, NM_001165970.2:c.717T>G, NM_001165970.1:c.717T>G, NR_156741.2:n.780T>G, NR_156741.1:n.967T>G, NM_001363786.1:c.825T>G, NM_001363787.1:c.762T>G, NM_001363788.1:c.849T>G, NM_001363791.1:c.675T>G, NM_001363790.1:c.675T>G, NM_001363789.1:c.738T>G, XM_005257801.6:c.849T>G, XM_005257803.6:c.677T>G, XM_011525466.4:c.849T>G, XM_011525466.3:c.849T>G, XM_011525466.2:c.849T>G, XM_011525466.1:c.849T>G, XM_017025314.3:c.762T>G, XM_047437052.1:c.744T>G, NM_001411083.1:c.849T>G, NM_001411084.1:c.762T>G, NM_001411085.1:c.677T>G, XM_047437053.1:c.762T>G, XM_047437055.1:c.738T>G, XM_047437054.1:c.675T>G, XM_047437059.1:c.738T>G, XM_047437056.1:c.849T>G, XM_047437057.1:c.762T>G, XM_047437058.1:c.738T>G, XP_005257860.1:p.Leu226Arg

            6.

            rs1484482784 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:63713429 (GRCh38)
              17:61790789 (GRCh37)
              Canonical SPDI:
              NC_000017.11:63713428:T:C
              Gene:
              STRADA (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.63713429T>C, NC_000017.10:g.61790789T>C, NG_015817.1:g.33542A>G, NM_153335.6:c.214A>G, NM_153335.5:c.214A>G, NM_001003787.4:c.325A>G, NM_001003787.3:c.325A>G, NM_001003787.2:c.325A>G, NM_001003788.3:c.151A>G, NM_001003788.2:c.151A>G, NM_001003786.3:c.214A>G, NM_001003786.2:c.214A>G, NM_001165969.2:c.238A>G, NM_001165969.1:c.238A>G, NM_001165970.2:c.193A>G, NM_001165970.1:c.193A>G, NR_156741.2:n.428A>G, NR_156741.1:n.615A>G, NM_001363786.1:c.301A>G, NM_001363787.1:c.238A>G, NM_001363788.1:c.325A>G, NM_001363791.1:c.151A>G, NM_001363790.1:c.151A>G, NM_001363789.1:c.214A>G, XM_005257801.6:c.325A>G, XM_005257803.6:c.325A>G, XM_011525466.4:c.325A>G, XM_011525466.3:c.325A>G, XM_011525466.2:c.325A>G, XM_011525466.1:c.325A>G, XM_017025314.3:c.238A>G, XM_047437052.1:c.220A>G, NM_001411083.1:c.325A>G, NM_001411084.1:c.238A>G, NM_001411085.1:c.325A>G, XM_047437053.1:c.238A>G, XM_047437055.1:c.214A>G, XM_047437054.1:c.151A>G, XM_047437059.1:c.214A>G, XM_047437056.1:c.325A>G, XM_047437057.1:c.238A>G, XM_047437058.1:c.214A>G, NP_699166.2:p.Asn72Asp, NP_001003787.1:p.Asn109Asp, NP_001003788.1:p.Asn51Asp, NP_001003786.1:p.Asn72Asp, NP_001159441.1:p.Asn80Asp, NP_001159442.1:p.Asn65Asp, NP_001350715.1:p.Asn101Asp, NP_001350716.1:p.Asn80Asp, NP_001350717.1:p.Asn109Asp, NP_001350720.1:p.Asn51Asp, NP_001350719.1:p.Asn51Asp, NP_001350718.1:p.Asn72Asp, XP_005257858.1:p.Asn109Asp, XP_005257860.1:p.Asn109Asp, XP_011523768.1:p.Asn109Asp, XP_016880803.1:p.Asn80Asp, XP_047293008.1:p.Asn74Asp, XP_047293009.1:p.Asn80Asp, XP_047293011.1:p.Asn72Asp, XP_047293010.1:p.Asn51Asp, XP_047293015.1:p.Asn72Asp, XP_047293012.1:p.Asn109Asp, XP_047293013.1:p.Asn80Asp, XP_047293014.1:p.Asn72Asp

              7.

              rs1481364195 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                17:63704514 (GRCh38)
                17:61781874 (GRCh37)
                Canonical SPDI:
                NC_000017.11:63704513:C:G
                Gene:
                STRADA (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.63704514C>G, NC_000017.10:g.61781874C>G, NG_015817.1:g.42457G>C, NM_153335.6:c.816G>C, NM_153335.5:c.816G>C, NM_001003787.4:c.927G>C, NM_001003787.3:c.927G>C, NM_001003787.2:c.927G>C, NM_001003788.3:c.753G>C, NM_001003788.2:c.753G>C, NM_001003786.3:c.816G>C, NM_001003786.2:c.816G>C, NM_001165969.2:c.840G>C, NM_001165969.1:c.840G>C, NM_001165970.2:c.795G>C, NM_001165970.1:c.795G>C, NR_156741.2:n.858G>C, NR_156741.1:n.1045G>C, NM_001363786.1:c.903G>C, NM_001363787.1:c.840G>C, NM_001363788.1:c.927G>C, NM_001363791.1:c.753G>C, NM_001363790.1:c.753G>C, NM_001363789.1:c.816G>C, XM_005257801.6:c.*365G>C, XM_005257803.6:c.*376G>C, XM_011525466.4:c.927G>C, XM_011525466.3:c.927G>C, XM_011525466.2:c.927G>C, XM_011525466.1:c.927G>C, XM_017025314.3:c.*365G>C, XM_047437052.1:c.822G>C, NM_001411083.1:c.*365G>C, NM_001411084.1:c.*365G>C, NM_001411085.1:c.*376G>C, XM_047437053.1:c.840G>C, XM_047437055.1:c.816G>C, XM_047437054.1:c.753G>C, XM_047437059.1:c.*365G>C, XM_047437056.1:c.927G>C, XM_047437057.1:c.840G>C, XM_047437058.1:c.816G>C, NP_699166.2:p.Glu272Asp, NP_001003787.1:p.Glu309Asp, NP_001003788.1:p.Glu251Asp, NP_001003786.1:p.Glu272Asp, NP_001159441.1:p.Glu280Asp, NP_001159442.1:p.Glu265Asp, NP_001350715.1:p.Glu301Asp, NP_001350716.1:p.Glu280Asp, NP_001350717.1:p.Glu309Asp, NP_001350720.1:p.Glu251Asp, NP_001350719.1:p.Glu251Asp, NP_001350718.1:p.Glu272Asp, XP_011523768.1:p.Glu309Asp, XP_047293008.1:p.Glu274Asp, XP_047293009.1:p.Glu280Asp, XP_047293011.1:p.Glu272Asp, XP_047293010.1:p.Glu251Asp, XP_047293012.1:p.Glu309Asp, XP_047293013.1:p.Glu280Asp, XP_047293014.1:p.Glu272Asp

                8.

                rs1479468870 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:63714073 (GRCh38)
                  17:61791433 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:63714072:G:C
                  Gene:
                  STRADA (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_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_000017.11:g.63714073G>C, NC_000017.10:g.61791433G>C, NG_015817.1:g.32898C>G, NM_153335.6:c.48C>G, NM_153335.5:c.48C>G, NM_001003787.4:c.159C>G, NM_001003787.3:c.159C>G, NM_001003787.2:c.159C>G, NM_001003788.3:c.-16C>G, NM_001003788.2:c.-16C>G, NM_001003786.3:c.48C>G, NM_001003786.2:c.48C>G, NM_001165969.2:c.72C>G, NM_001165969.1:c.72C>G, NR_156741.2:n.262C>G, NR_156741.1:n.449C>G, NM_001363786.1:c.135C>G, NM_001363787.1:c.72C>G, NM_001363788.1:c.159C>G, NM_001363791.1:c.-16C>G, NM_001363790.1:c.-16C>G, NM_001363789.1:c.48C>G, XM_005257801.6:c.159C>G, XM_005257803.6:c.159C>G, XM_011525466.4:c.159C>G, XM_011525466.3:c.159C>G, XM_011525466.2:c.159C>G, XM_011525466.1:c.159C>G, XM_017025314.3:c.72C>G, XM_047437052.1:c.54C>G, NM_001411083.1:c.159C>G, NM_001411084.1:c.72C>G, NM_001411085.1:c.159C>G, XM_047437053.1:c.72C>G, XM_047437055.1:c.48C>G, XM_047437054.1:c.-16C>G, XM_047437059.1:c.48C>G, XM_047437056.1:c.159C>G, XM_047437057.1:c.72C>G, XM_047437058.1:c.48C>G, NP_699166.2:p.Phe16Leu, NP_001003787.1:p.Phe53Leu, NP_001003786.1:p.Phe16Leu, NP_001159441.1:p.Phe24Leu, NP_001350715.1:p.Phe45Leu, NP_001350716.1:p.Phe24Leu, NP_001350717.1:p.Phe53Leu, NP_001350718.1:p.Phe16Leu, XP_005257858.1:p.Phe53Leu, XP_005257860.1:p.Phe53Leu, XP_011523768.1:p.Phe53Leu, XP_016880803.1:p.Phe24Leu, XP_047293008.1:p.Phe18Leu, XP_047293009.1:p.Phe24Leu, XP_047293011.1:p.Phe16Leu, XP_047293015.1:p.Phe16Leu, XP_047293012.1:p.Phe53Leu, XP_047293013.1:p.Phe24Leu, XP_047293014.1:p.Phe16Leu

                  9.

                  rs1477833021 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:63710737 (GRCh38)
                    17:61788097 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:63710736:T:C
                    Gene:
                    STRADA (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.63710737T>C, NC_000017.10:g.61788097T>C, NG_015817.1:g.36234A>G, NM_153335.6:c.337A>G, NM_153335.5:c.337A>G, NM_001003787.4:c.448A>G, NM_001003787.3:c.448A>G, NM_001003787.2:c.448A>G, NM_001003788.3:c.274A>G, NM_001003788.2:c.274A>G, NM_001003786.3:c.337A>G, NM_001003786.2:c.337A>G, NM_001165969.2:c.361A>G, NM_001165969.1:c.361A>G, NM_001165970.2:c.316A>G, NM_001165970.1:c.316A>G, NR_156741.2:n.551A>G, NR_156741.1:n.738A>G, NM_001363786.1:c.424A>G, NM_001363787.1:c.361A>G, NM_001363788.1:c.448A>G, NM_001363791.1:c.274A>G, NM_001363790.1:c.274A>G, NM_001363789.1:c.337A>G, XM_005257801.6:c.448A>G, XM_005257803.6:c.448A>G, XM_011525466.4:c.448A>G, XM_011525466.3:c.448A>G, XM_011525466.2:c.448A>G, XM_011525466.1:c.448A>G, XM_017025314.3:c.361A>G, XM_047437052.1:c.343A>G, NM_001411083.1:c.448A>G, NM_001411084.1:c.361A>G, NM_001411085.1:c.448A>G, XM_047437053.1:c.361A>G, XM_047437055.1:c.337A>G, XM_047437054.1:c.274A>G, XM_047437059.1:c.337A>G, XM_047437056.1:c.448A>G, XM_047437057.1:c.361A>G, XM_047437058.1:c.337A>G, NP_699166.2:p.Met113Val, NP_001003787.1:p.Met150Val, NP_001003788.1:p.Met92Val, NP_001003786.1:p.Met113Val, NP_001159441.1:p.Met121Val, NP_001159442.1:p.Met106Val, NP_001350715.1:p.Met142Val, NP_001350716.1:p.Met121Val, NP_001350717.1:p.Met150Val, NP_001350720.1:p.Met92Val, NP_001350719.1:p.Met92Val, NP_001350718.1:p.Met113Val, XP_005257858.1:p.Met150Val, XP_005257860.1:p.Met150Val, XP_011523768.1:p.Met150Val, XP_016880803.1:p.Met121Val, XP_047293008.1:p.Met115Val, XP_047293009.1:p.Met121Val, XP_047293011.1:p.Met113Val, XP_047293010.1:p.Met92Val, XP_047293015.1:p.Met113Val, XP_047293012.1:p.Met150Val, XP_047293013.1:p.Met121Val, XP_047293014.1:p.Met113Val

                    10.

                    rs1472304275 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      17:63710535 (GRCh38)
                      17:61787895 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:63710534:C:A,NC_000017.11:63710534:C:T
                      Gene:
                      STRADA (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000007/1 (GnomAD)
                      A=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000017.11:g.63710535C>A, NC_000017.11:g.63710535C>T, NC_000017.10:g.61787895C>A, NC_000017.10:g.61787895C>T, NG_015817.1:g.36436G>T, NG_015817.1:g.36436G>A, NM_153335.6:c.426G>T, NM_153335.6:c.426G>A, NM_153335.5:c.426G>T, NM_153335.5:c.426G>A, NM_001003787.4:c.537G>T, NM_001003787.4:c.537G>A, NM_001003787.3:c.537G>T, NM_001003787.3:c.537G>A, NM_001003787.2:c.537G>T, NM_001003787.2:c.537G>A, NM_001003788.3:c.363G>T, NM_001003788.3:c.363G>A, NM_001003788.2:c.363G>T, NM_001003788.2:c.363G>A, NM_001003786.3:c.426G>T, NM_001003786.3:c.426G>A, NM_001003786.2:c.426G>T, NM_001003786.2:c.426G>A, NM_001165969.2:c.450G>T, NM_001165969.2:c.450G>A, NM_001165969.1:c.450G>T, NM_001165969.1:c.450G>A, NM_001165970.2:c.405G>T, NM_001165970.2:c.405G>A, NM_001165970.1:c.405G>T, NM_001165970.1:c.405G>A, NR_156741.2:n.640G>T, NR_156741.2:n.640G>A, NR_156741.1:n.827G>T, NR_156741.1:n.827G>A, NM_001363786.1:c.513G>T, NM_001363786.1:c.513G>A, NM_001363787.1:c.450G>T, NM_001363787.1:c.450G>A, NM_001363788.1:c.537G>T, NM_001363788.1:c.537G>A, NM_001363791.1:c.363G>T, NM_001363791.1:c.363G>A, NM_001363790.1:c.363G>T, NM_001363790.1:c.363G>A, NM_001363789.1:c.426G>T, NM_001363789.1:c.426G>A, NG_080585.1:g.307C>A, NG_080585.1:g.307C>T, XM_005257801.6:c.537G>T, XM_005257801.6:c.537G>A, XM_005257803.6:c.537G>T, XM_005257803.6:c.537G>A, XM_011525466.4:c.537G>T, XM_011525466.4:c.537G>A, XM_011525466.3:c.537G>T, XM_011525466.3:c.537G>A, XM_011525466.2:c.537G>T, XM_011525466.2:c.537G>A, XM_011525466.1:c.537G>T, XM_011525466.1:c.537G>A, XM_017025314.3:c.450G>T, XM_017025314.3:c.450G>A, XM_047437052.1:c.432G>T, XM_047437052.1:c.432G>A, NM_001411083.1:c.537G>T, NM_001411083.1:c.537G>A, NM_001411084.1:c.450G>T, NM_001411084.1:c.450G>A, NM_001411085.1:c.537G>T, NM_001411085.1:c.537G>A, XM_047437053.1:c.450G>T, XM_047437053.1:c.450G>A, XM_047437055.1:c.426G>T, XM_047437055.1:c.426G>A, XM_047437054.1:c.363G>T, XM_047437054.1:c.363G>A, XM_047437059.1:c.426G>T, XM_047437059.1:c.426G>A, XM_047437056.1:c.537G>T, XM_047437056.1:c.537G>A, XM_047437057.1:c.450G>T, XM_047437057.1:c.450G>A, XM_047437058.1:c.426G>T, XM_047437058.1:c.426G>A

                      11.

                      rs1470381619 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CTTG>- [Show Flanks]
                        Chromosome:
                        17:63703746 (GRCh38)
                        17:61781106 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:63703744:GCTTG:G
                        Gene:
                        STRADA (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.63703746_63703749del, NC_000017.10:g.61781106_61781109del, NG_015817.1:g.43223_43226del, NM_153335.6:c.*535_*538del, NM_153335.5:c.*535_*538del, NM_001003787.4:c.1147_1150del, NM_001003787.3:c.1147_1150del, NM_001003787.2:c.1147_1150del, NM_001003788.3:c.973_976del, NM_001003788.2:c.973_976del, NM_001003786.3:c.1036_1039del, NM_001003786.2:c.1036_1039del, NM_001165969.2:c.*24_*27del, NM_001165969.1:c.*24_*27del, NM_001165970.2:c.*24_*27del, NM_001165970.1:c.*24_*27del, NR_156741.2:n.1078_1081del, NR_156741.1:n.1265_1268del, NM_001363786.1:c.1123_1126del, NM_001363787.1:c.1060_1063del, NM_001363788.1:c.*24_*27del, NM_001363791.1:c.*24_*27del, NM_001363790.1:c.839_842del, NM_001363789.1:c.*24_*27del, XM_011525466.4:c.1104_1107del, XM_011525466.3:c.1104_1107del, XM_011525466.2:c.1104_1107del, XM_011525466.1:c.1104_1107del, XM_047437052.1:c.1042_1045del, NM_001411083.1:c.*1131_*1134del, NM_001411084.1:c.*1131_*1134del, NM_001411085.1:c.*1142_*1145del, XM_047437053.1:c.1017_1020del, XM_047437055.1:c.993_996del, XM_047437054.1:c.973_976del, NP_001003787.1:p.Lys383fs, NP_001003788.1:p.Lys325fs, NP_001003786.1:p.Lys346fs, NP_001350715.1:p.Lys375fs, NP_001350716.1:p.Lys354fs, NP_001350719.1:p.Gln280fs, XP_011523768.1:p.Ser369fs, XP_047293008.1:p.Lys348fs, XP_047293009.1:p.Ser340fs, XP_047293011.1:p.Ser332fs, XP_047293010.1:p.Lys325fs

                        12.

                        rs1467387694 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          17:63704501 (GRCh38)
                          17:61781861 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:63704500:G:A,NC_000017.11:63704500:G:C
                          Gene:
                          STRADA (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.63704501G>A, NC_000017.11:g.63704501G>C, NC_000017.10:g.61781861G>A, NC_000017.10:g.61781861G>C, NG_015817.1:g.42470C>T, NG_015817.1:g.42470C>G, NM_153335.6:c.829C>T, NM_153335.6:c.829C>G, NM_153335.5:c.829C>T, NM_153335.5:c.829C>G, NM_001003787.4:c.940C>T, NM_001003787.4:c.940C>G, NM_001003787.3:c.940C>T, NM_001003787.3:c.940C>G, NM_001003787.2:c.940C>T, NM_001003787.2:c.940C>G, NM_001003788.3:c.766C>T, NM_001003788.3:c.766C>G, NM_001003788.2:c.766C>T, NM_001003788.2:c.766C>G, NM_001003786.3:c.829C>T, NM_001003786.3:c.829C>G, NM_001003786.2:c.829C>T, NM_001003786.2:c.829C>G, NM_001165969.2:c.853C>T, NM_001165969.2:c.853C>G, NM_001165969.1:c.853C>T, NM_001165969.1:c.853C>G, NM_001165970.2:c.808C>T, NM_001165970.2:c.808C>G, NM_001165970.1:c.808C>T, NM_001165970.1:c.808C>G, NR_156741.2:n.871C>T, NR_156741.2:n.871C>G, NR_156741.1:n.1058C>T, NR_156741.1:n.1058C>G, NM_001363786.1:c.916C>T, NM_001363786.1:c.916C>G, NM_001363787.1:c.853C>T, NM_001363787.1:c.853C>G, NM_001363788.1:c.940C>T, NM_001363788.1:c.940C>G, NM_001363791.1:c.766C>T, NM_001363791.1:c.766C>G, NM_001363790.1:c.766C>T, NM_001363790.1:c.766C>G, NM_001363789.1:c.829C>T, NM_001363789.1:c.829C>G, XM_005257801.6:c.*378C>T, XM_005257801.6:c.*378C>G, XM_005257803.6:c.*389C>T, XM_005257803.6:c.*389C>G, XM_011525466.4:c.940C>T, XM_011525466.4:c.940C>G, XM_011525466.3:c.940C>T, XM_011525466.3:c.940C>G, XM_011525466.2:c.940C>T, XM_011525466.2:c.940C>G, XM_011525466.1:c.940C>T, XM_011525466.1:c.940C>G, XM_017025314.3:c.*378C>T, XM_017025314.3:c.*378C>G, XM_047437052.1:c.835C>T, XM_047437052.1:c.835C>G, NM_001411083.1:c.*378C>T, NM_001411083.1:c.*378C>G, NM_001411084.1:c.*378C>T, NM_001411084.1:c.*378C>G, NM_001411085.1:c.*389C>T, NM_001411085.1:c.*389C>G, XM_047437053.1:c.853C>T, XM_047437053.1:c.853C>G, XM_047437055.1:c.829C>T, XM_047437055.1:c.829C>G, XM_047437054.1:c.766C>T, XM_047437054.1:c.766C>G, XM_047437059.1:c.*378C>T, XM_047437059.1:c.*378C>G, XM_047437056.1:c.940C>T, XM_047437056.1:c.940C>G, XM_047437057.1:c.853C>T, XM_047437057.1:c.853C>G, XM_047437058.1:c.829C>T, XM_047437058.1:c.829C>G, NP_699166.2:p.Pro277Ser, NP_699166.2:p.Pro277Ala, NP_001003787.1:p.Pro314Ser, NP_001003787.1:p.Pro314Ala, NP_001003788.1:p.Pro256Ser, NP_001003788.1:p.Pro256Ala, NP_001003786.1:p.Pro277Ser, NP_001003786.1:p.Pro277Ala, NP_001159441.1:p.Pro285Ser, NP_001159441.1:p.Pro285Ala, NP_001159442.1:p.Pro270Ser, NP_001159442.1:p.Pro270Ala, NP_001350715.1:p.Pro306Ser, NP_001350715.1:p.Pro306Ala, NP_001350716.1:p.Pro285Ser, NP_001350716.1:p.Pro285Ala, NP_001350717.1:p.Pro314Ser, NP_001350717.1:p.Pro314Ala, NP_001350720.1:p.Pro256Ser, NP_001350720.1:p.Pro256Ala, NP_001350719.1:p.Pro256Ser, NP_001350719.1:p.Pro256Ala, NP_001350718.1:p.Pro277Ser, NP_001350718.1:p.Pro277Ala, XP_011523768.1:p.Pro314Ser, XP_011523768.1:p.Pro314Ala, XP_047293008.1:p.Pro279Ser, XP_047293008.1:p.Pro279Ala, XP_047293009.1:p.Pro285Ser, XP_047293009.1:p.Pro285Ala, XP_047293011.1:p.Pro277Ser, XP_047293011.1:p.Pro277Ala, XP_047293010.1:p.Pro256Ser, XP_047293010.1:p.Pro256Ala, XP_047293012.1:p.Pro314Ser, XP_047293012.1:p.Pro314Ala, XP_047293013.1:p.Pro285Ser, XP_047293013.1:p.Pro285Ala, XP_047293014.1:p.Pro277Ser, XP_047293014.1:p.Pro277Ala

                          13.

                          rs1463290994 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            17:63706721 (GRCh38)
                            17:61784081 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:63706720:C:G
                            Gene:
                            STRADA (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000047/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.63706721C>G, NC_000017.10:g.61784081C>G, NG_015817.1:g.40250G>C, NM_153335.6:c.661G>C, NM_153335.5:c.661G>C, NM_001003787.4:c.772G>C, NM_001003787.3:c.772G>C, NM_001003787.2:c.772G>C, NM_001003788.3:c.598G>C, NM_001003788.2:c.598G>C, NM_001003786.3:c.661G>C, NM_001003786.2:c.661G>C, NM_001165969.2:c.685G>C, NM_001165969.1:c.685G>C, NM_001165970.2:c.640G>C, NM_001165970.1:c.640G>C, NR_156741.2:n.703G>C, NR_156741.1:n.890G>C, NM_001363786.1:c.748G>C, NM_001363787.1:c.685G>C, NM_001363788.1:c.772G>C, NM_001363791.1:c.598G>C, NM_001363790.1:c.598G>C, NM_001363789.1:c.661G>C, XM_005257801.6:c.772G>C, XM_005257803.6:c.600G>C, XM_011525466.4:c.772G>C, XM_011525466.3:c.772G>C, XM_011525466.2:c.772G>C, XM_011525466.1:c.772G>C, XM_017025314.3:c.685G>C, XM_047437052.1:c.667G>C, NM_001411083.1:c.772G>C, NM_001411084.1:c.685G>C, NM_001411085.1:c.600G>C, XM_047437053.1:c.685G>C, XM_047437055.1:c.661G>C, XM_047437054.1:c.598G>C, XM_047437059.1:c.661G>C, XM_047437056.1:c.772G>C, XM_047437057.1:c.685G>C, XM_047437058.1:c.661G>C, NP_699166.2:p.Ala221Pro, NP_001003787.1:p.Ala258Pro, NP_001003788.1:p.Ala200Pro, NP_001003786.1:p.Ala221Pro, NP_001159441.1:p.Ala229Pro, NP_001159442.1:p.Ala214Pro, NP_001350715.1:p.Ala250Pro, NP_001350716.1:p.Ala229Pro, NP_001350717.1:p.Ala258Pro, NP_001350720.1:p.Ala200Pro, NP_001350719.1:p.Ala200Pro, NP_001350718.1:p.Ala221Pro, XP_005257858.1:p.Ala258Pro, XP_005257860.1:p.Met200Ile, XP_011523768.1:p.Ala258Pro, XP_016880803.1:p.Ala229Pro, XP_047293008.1:p.Ala223Pro, XP_047293009.1:p.Ala229Pro, XP_047293011.1:p.Ala221Pro, XP_047293010.1:p.Ala200Pro, XP_047293015.1:p.Ala221Pro, XP_047293012.1:p.Ala258Pro, XP_047293013.1:p.Ala229Pro, XP_047293014.1:p.Ala221Pro

                            14.

                            rs1461780831 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              17:63707412 (GRCh38)
                              17:61784772 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:63707411:G:C
                              Gene:
                              STRADA (Varview)
                              Functional Consequence:
                              synonymous_variant,intron_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_000017.11:g.63707412G>C, NC_000017.10:g.61784772G>C, NG_015817.1:g.39559C>G, NM_153335.6:c.477C>G, NM_153335.5:c.477C>G, NM_001003787.4:c.588C>G, NM_001003787.3:c.588C>G, NM_001003787.2:c.588C>G, NM_001003788.3:c.414C>G, NM_001003788.2:c.414C>G, NM_001003786.3:c.477C>G, NM_001003786.2:c.477C>G, NM_001165969.2:c.501C>G, NM_001165969.1:c.501C>G, NM_001165970.2:c.456C>G, NM_001165970.1:c.456C>G, NM_001363786.1:c.564C>G, NM_001363787.1:c.501C>G, NM_001363788.1:c.588C>G, NM_001363791.1:c.414C>G, NM_001363790.1:c.414C>G, NM_001363789.1:c.477C>G, XM_005257801.6:c.588C>G, XM_011525466.4:c.588C>G, XM_011525466.3:c.588C>G, XM_011525466.2:c.588C>G, XM_011525466.1:c.588C>G, XM_017025314.3:c.501C>G, XM_047437052.1:c.483C>G, NM_001411083.1:c.588C>G, NM_001411084.1:c.501C>G, XM_047437053.1:c.501C>G, XM_047437055.1:c.477C>G, XM_047437054.1:c.414C>G, XM_047437059.1:c.477C>G, XM_047437056.1:c.588C>G, XM_047437057.1:c.501C>G, XM_047437058.1:c.477C>G

                              15.

                              rs1460100761 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                17:63710536 (GRCh38)
                                17:61787896 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:63710535:A:C
                                Gene:
                                STRADA (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000017.11:g.63710536A>C, NC_000017.10:g.61787896A>C, NG_015817.1:g.36435T>G, NM_153335.6:c.425T>G, NM_153335.5:c.425T>G, NM_001003787.4:c.536T>G, NM_001003787.3:c.536T>G, NM_001003787.2:c.536T>G, NM_001003788.3:c.362T>G, NM_001003788.2:c.362T>G, NM_001003786.3:c.425T>G, NM_001003786.2:c.425T>G, NM_001165969.2:c.449T>G, NM_001165969.1:c.449T>G, NM_001165970.2:c.404T>G, NM_001165970.1:c.404T>G, NR_156741.2:n.639T>G, NR_156741.1:n.826T>G, NM_001363786.1:c.512T>G, NM_001363787.1:c.449T>G, NM_001363788.1:c.536T>G, NM_001363791.1:c.362T>G, NM_001363790.1:c.362T>G, NM_001363789.1:c.425T>G, NG_080585.1:g.308A>C, XM_005257801.6:c.536T>G, XM_005257803.6:c.536T>G, XM_011525466.4:c.536T>G, XM_011525466.3:c.536T>G, XM_011525466.2:c.536T>G, XM_011525466.1:c.536T>G, XM_017025314.3:c.449T>G, XM_047437052.1:c.431T>G, NM_001411083.1:c.536T>G, NM_001411084.1:c.449T>G, NM_001411085.1:c.536T>G, XM_047437053.1:c.449T>G, XM_047437055.1:c.425T>G, XM_047437054.1:c.362T>G, XM_047437059.1:c.425T>G, XM_047437056.1:c.536T>G, XM_047437057.1:c.449T>G, XM_047437058.1:c.425T>G, NP_699166.2:p.Val142Gly, NP_001003787.1:p.Val179Gly, NP_001003788.1:p.Val121Gly, NP_001003786.1:p.Val142Gly, NP_001159441.1:p.Val150Gly, NP_001159442.1:p.Val135Gly, NP_001350715.1:p.Val171Gly, NP_001350716.1:p.Val150Gly, NP_001350717.1:p.Val179Gly, NP_001350720.1:p.Val121Gly, NP_001350719.1:p.Val121Gly, NP_001350718.1:p.Val142Gly, XP_005257858.1:p.Val179Gly, XP_005257860.1:p.Val179Gly, XP_011523768.1:p.Val179Gly, XP_016880803.1:p.Val150Gly, XP_047293008.1:p.Val144Gly, XP_047293009.1:p.Val150Gly, XP_047293011.1:p.Val142Gly, XP_047293010.1:p.Val121Gly, XP_047293015.1:p.Val142Gly, XP_047293012.1:p.Val179Gly, XP_047293013.1:p.Val150Gly, XP_047293014.1:p.Val142Gly

                                16.

                                rs1459844600 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:63704373 (GRCh38)
                                  17:61781733 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:63704372:C:T
                                  Gene:
                                  STRADA (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1455191414 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    17:63707375 (GRCh38)
                                    17:61784735 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:63707374:C:A
                                    Gene:
                                    STRADA (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000111/1 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.63707375C>A, NC_000017.10:g.61784735C>A, NG_015817.1:g.39596G>T, NM_153335.6:c.514G>T, NM_153335.5:c.514G>T, NM_001003787.4:c.625G>T, NM_001003787.3:c.625G>T, NM_001003787.2:c.625G>T, NM_001003788.3:c.451G>T, NM_001003788.2:c.451G>T, NM_001003786.3:c.514G>T, NM_001003786.2:c.514G>T, NM_001165969.2:c.538G>T, NM_001165969.1:c.538G>T, NM_001165970.2:c.493G>T, NM_001165970.1:c.493G>T, NM_001363786.1:c.601G>T, NM_001363787.1:c.538G>T, NM_001363788.1:c.625G>T, NM_001363791.1:c.451G>T, NM_001363790.1:c.451G>T, NM_001363789.1:c.514G>T, XM_005257801.6:c.625G>T, XM_011525466.4:c.625G>T, XM_011525466.3:c.625G>T, XM_011525466.2:c.625G>T, XM_011525466.1:c.625G>T, XM_017025314.3:c.538G>T, XM_047437052.1:c.520G>T, NM_001411083.1:c.625G>T, NM_001411084.1:c.538G>T, XM_047437053.1:c.538G>T, XM_047437055.1:c.514G>T, XM_047437054.1:c.451G>T, XM_047437059.1:c.514G>T, XM_047437056.1:c.625G>T, XM_047437057.1:c.538G>T, XM_047437058.1:c.514G>T, NP_699166.2:p.Val172Phe, NP_001003787.1:p.Val209Phe, NP_001003788.1:p.Val151Phe, NP_001003786.1:p.Val172Phe, NP_001159441.1:p.Val180Phe, NP_001159442.1:p.Val165Phe, NP_001350715.1:p.Val201Phe, NP_001350716.1:p.Val180Phe, NP_001350717.1:p.Val209Phe, NP_001350720.1:p.Val151Phe, NP_001350719.1:p.Val151Phe, NP_001350718.1:p.Val172Phe, XP_005257858.1:p.Val209Phe, XP_011523768.1:p.Val209Phe, XP_016880803.1:p.Val180Phe, XP_047293008.1:p.Val174Phe, XP_047293009.1:p.Val180Phe, XP_047293011.1:p.Val172Phe, XP_047293010.1:p.Val151Phe, XP_047293015.1:p.Val172Phe, XP_047293012.1:p.Val209Phe, XP_047293013.1:p.Val180Phe, XP_047293014.1:p.Val172Phe

                                    18.

                                    rs1451961241 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:63707369 (GRCh38)
                                      17:61784729 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:63707368:G:A
                                      Gene:
                                      STRADA (Varview)
                                      Functional Consequence:
                                      synonymous_variant,intron_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.63707369G>A, NC_000017.10:g.61784729G>A, NG_015817.1:g.39602C>T, NM_153335.6:c.520C>T, NM_153335.5:c.520C>T, NM_001003787.4:c.631C>T, NM_001003787.3:c.631C>T, NM_001003787.2:c.631C>T, NM_001003788.3:c.457C>T, NM_001003788.2:c.457C>T, NM_001003786.3:c.520C>T, NM_001003786.2:c.520C>T, NM_001165969.2:c.544C>T, NM_001165969.1:c.544C>T, NM_001165970.2:c.499C>T, NM_001165970.1:c.499C>T, NM_001363786.1:c.607C>T, NM_001363787.1:c.544C>T, NM_001363788.1:c.631C>T, NM_001363791.1:c.457C>T, NM_001363790.1:c.457C>T, NM_001363789.1:c.520C>T, XM_005257801.6:c.631C>T, XM_011525466.4:c.631C>T, XM_011525466.3:c.631C>T, XM_011525466.2:c.631C>T, XM_011525466.1:c.631C>T, XM_017025314.3:c.544C>T, XM_047437052.1:c.526C>T, NM_001411083.1:c.631C>T, NM_001411084.1:c.544C>T, XM_047437053.1:c.544C>T, XM_047437055.1:c.520C>T, XM_047437054.1:c.457C>T, XM_047437059.1:c.520C>T, XM_047437056.1:c.631C>T, XM_047437057.1:c.544C>T, XM_047437058.1:c.520C>T

                                      19.

                                      rs1451479267 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:63710540 (GRCh38)
                                        17:61787900 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:63710539:C:T
                                        Gene:
                                        STRADA (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000017.11:g.63710540C>T, NC_000017.10:g.61787900C>T, NG_015817.1:g.36431G>A, NM_153335.6:c.421G>A, NM_153335.5:c.421G>A, NM_001003787.4:c.532G>A, NM_001003787.3:c.532G>A, NM_001003787.2:c.532G>A, NM_001003788.3:c.358G>A, NM_001003788.2:c.358G>A, NM_001003786.3:c.421G>A, NM_001003786.2:c.421G>A, NM_001165969.2:c.445G>A, NM_001165969.1:c.445G>A, NM_001165970.2:c.400G>A, NM_001165970.1:c.400G>A, NR_156741.2:n.635G>A, NR_156741.1:n.822G>A, NM_001363786.1:c.508G>A, NM_001363787.1:c.445G>A, NM_001363788.1:c.532G>A, NM_001363791.1:c.358G>A, NM_001363790.1:c.358G>A, NM_001363789.1:c.421G>A, NG_080585.1:g.312C>T, XM_005257801.6:c.532G>A, XM_005257803.6:c.532G>A, XM_011525466.4:c.532G>A, XM_011525466.3:c.532G>A, XM_011525466.2:c.532G>A, XM_011525466.1:c.532G>A, XM_017025314.3:c.445G>A, XM_047437052.1:c.427G>A, NM_001411083.1:c.532G>A, NM_001411084.1:c.445G>A, NM_001411085.1:c.532G>A, XM_047437053.1:c.445G>A, XM_047437055.1:c.421G>A, XM_047437054.1:c.358G>A, XM_047437059.1:c.421G>A, XM_047437056.1:c.532G>A, XM_047437057.1:c.445G>A, XM_047437058.1:c.421G>A, NP_699166.2:p.Gly141Arg, NP_001003787.1:p.Gly178Arg, NP_001003788.1:p.Gly120Arg, NP_001003786.1:p.Gly141Arg, NP_001159441.1:p.Gly149Arg, NP_001159442.1:p.Gly134Arg, NP_001350715.1:p.Gly170Arg, NP_001350716.1:p.Gly149Arg, NP_001350717.1:p.Gly178Arg, NP_001350720.1:p.Gly120Arg, NP_001350719.1:p.Gly120Arg, NP_001350718.1:p.Gly141Arg, XP_005257858.1:p.Gly178Arg, XP_005257860.1:p.Gly178Arg, XP_011523768.1:p.Gly178Arg, XP_016880803.1:p.Gly149Arg, XP_047293008.1:p.Gly143Arg, XP_047293009.1:p.Gly149Arg, XP_047293011.1:p.Gly141Arg, XP_047293010.1:p.Gly120Arg, XP_047293015.1:p.Gly141Arg, XP_047293012.1:p.Gly178Arg, XP_047293013.1:p.Gly149Arg, XP_047293014.1:p.Gly141Arg

                                        20.

                                        rs1451039260 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:63710803 (GRCh38)
                                          17:61788163 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:63710802:G:C
                                          Gene:
                                          STRADA (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000142/2 (ALFA)
                                          C=0.000008/2 (GnomAD_exomes)
                                          C=0.000049/13 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.63710803G>C, NC_000017.10:g.61788163G>C, NG_015817.1:g.36168C>G, NM_153335.6:c.271C>G, NM_153335.5:c.271C>G, NM_001003787.4:c.382C>G, NM_001003787.3:c.382C>G, NM_001003787.2:c.382C>G, NM_001003788.3:c.208C>G, NM_001003788.2:c.208C>G, NM_001003786.3:c.271C>G, NM_001003786.2:c.271C>G, NM_001165969.2:c.295C>G, NM_001165969.1:c.295C>G, NM_001165970.2:c.250C>G, NM_001165970.1:c.250C>G, NR_156741.2:n.485C>G, NR_156741.1:n.672C>G, NM_001363786.1:c.358C>G, NM_001363787.1:c.295C>G, NM_001363788.1:c.382C>G, NM_001363791.1:c.208C>G, NM_001363790.1:c.208C>G, NM_001363789.1:c.271C>G, XM_005257801.6:c.382C>G, XM_005257803.6:c.382C>G, XM_011525466.4:c.382C>G, XM_011525466.3:c.382C>G, XM_011525466.2:c.382C>G, XM_011525466.1:c.382C>G, XM_017025314.3:c.295C>G, XM_047437052.1:c.277C>G, NM_001411083.1:c.382C>G, NM_001411084.1:c.295C>G, NM_001411085.1:c.382C>G, XM_047437053.1:c.295C>G, XM_047437055.1:c.271C>G, XM_047437054.1:c.208C>G, XM_047437059.1:c.271C>G, XM_047437056.1:c.382C>G, XM_047437057.1:c.295C>G, XM_047437058.1:c.271C>G, NP_699166.2:p.Pro91Ala, NP_001003787.1:p.Pro128Ala, NP_001003788.1:p.Pro70Ala, NP_001003786.1:p.Pro91Ala, NP_001159441.1:p.Pro99Ala, NP_001159442.1:p.Pro84Ala, NP_001350715.1:p.Pro120Ala, NP_001350716.1:p.Pro99Ala, NP_001350717.1:p.Pro128Ala, NP_001350720.1:p.Pro70Ala, NP_001350719.1:p.Pro70Ala, NP_001350718.1:p.Pro91Ala, XP_005257858.1:p.Pro128Ala, XP_005257860.1:p.Pro128Ala, XP_011523768.1:p.Pro128Ala, XP_016880803.1:p.Pro99Ala, XP_047293008.1:p.Pro93Ala, XP_047293009.1:p.Pro99Ala, XP_047293011.1:p.Pro91Ala, XP_047293010.1:p.Pro70Ala, XP_047293015.1:p.Pro91Ala, XP_047293012.1:p.Pro128Ala, XP_047293013.1:p.Pro99Ala, XP_047293014.1:p.Pro91Ala

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