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Items: 1 to 20 of 533

1.

rs1490512390 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    7:77355301 (GRCh38)
    7:76984618 (GRCh37)
    Canonical SPDI:
    NC_000007.14:77355300:A:T
    Gene:
    GSAP (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.77355301A>T, NC_000007.13:g.76984618A>T, NM_017439.4:c.1250T>A, NM_017439.3:c.1250T>A, XR_927479.4:n.1278T>A, XR_927479.3:n.1342T>A, XR_927479.2:n.1342T>A, XR_927479.1:n.1337T>A, XM_011516331.4:c.1250T>A, XM_011516331.3:c.1250T>A, XM_011516331.2:c.1250T>A, XM_011516331.1:c.1250T>A, XM_011516332.4:c.1250T>A, XM_011516332.3:c.1250T>A, XM_011516332.2:c.1250T>A, XM_011516332.1:c.1250T>A, XM_011516325.3:c.1250T>A, XM_011516325.2:c.1250T>A, XM_011516325.1:c.1250T>A, XM_011516327.3:c.1250T>A, XM_011516327.2:c.1250T>A, XM_011516327.1:c.1250T>A, XM_011516330.3:c.605T>A, XM_011516330.2:c.605T>A, XM_011516330.1:c.605T>A, XM_017012350.3:c.1250T>A, XM_017012350.2:c.1250T>A, XM_017012350.1:c.1250T>A, XM_017012351.3:c.1250T>A, XM_017012351.2:c.1250T>A, XM_017012351.1:c.1250T>A, NR_146937.2:n.1278T>A, NR_146937.1:n.1329T>A, NM_001350896.2:c.1250T>A, NM_001350896.1:c.1250T>A, NR_146938.2:n.1278T>A, NR_146938.1:n.1329T>A, NM_001350897.2:c.1250T>A, NM_001350897.1:c.1250T>A, NM_001350898.2:c.1193T>A, NM_001350898.1:c.1193T>A, XM_017012346.2:c.605T>A, XM_017012346.1:c.605T>A, NM_001350899.2:c.1250T>A, NM_001350899.1:c.1250T>A, NM_001350900.2:c.605T>A, NM_001350900.1:c.605T>A, NM_001350901.2:c.605T>A, NM_001350901.1:c.605T>A, XR_001744817.2:n.1278T>A, XR_001744817.1:n.1342T>A, XM_047420490.1:c.605T>A, XM_047420492.1:c.605T>A, XM_047420491.1:c.605T>A, XM_047420493.1:c.605T>A, XM_047420494.1:c.605T>A, XM_047420487.1:c.1250T>A, XM_047420488.1:c.1250T>A, XM_047420489.1:c.1250T>A, XR_007060056.1:n.1278T>A, XM_047420495.1:c.1250T>A, NP_059135.2:p.Leu417Gln, XP_011514633.1:p.Leu417Gln, XP_011514634.1:p.Leu417Gln, XP_011514627.1:p.Leu417Gln, XP_011514629.1:p.Leu417Gln, XP_011514632.1:p.Leu202Gln, XP_016867839.1:p.Leu417Gln, XP_016867840.1:p.Leu417Gln, NP_001337825.1:p.Leu417Gln, NP_001337826.1:p.Leu417Gln, NP_001337827.1:p.Leu398Gln, XP_016867835.1:p.Leu202Gln, NP_001337828.1:p.Leu417Gln, NP_001337829.1:p.Leu202Gln, NP_001337830.1:p.Leu202Gln, XP_047276446.1:p.Leu202Gln, XP_047276448.1:p.Leu202Gln, XP_047276447.1:p.Leu202Gln, XP_047276449.1:p.Leu202Gln, XP_047276450.1:p.Leu202Gln, XP_047276443.1:p.Leu417Gln, XP_047276444.1:p.Leu417Gln, XP_047276445.1:p.Leu417Gln, XP_047276451.1:p.Leu417Gln

    2.

    rs1484974021 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      7:77416300 (GRCh38)
      7:77045617 (GRCh37)
      Canonical SPDI:
      NC_000007.14:77416299:C:T
      Gene:
      GSAP (Varview), LOC101927243 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000021/3 (GnomAD)
      T=0.000023/6 (TOPMED)
      HGVS:
      NC_000007.14:g.77416300C>T, NC_000007.13:g.77045617C>T, NM_017439.4:c.22G>A, NM_017439.3:c.22G>A, XR_927479.4:n.50G>A, XR_927479.3:n.114G>A, XR_927479.2:n.114G>A, XR_927479.1:n.109G>A, XM_011516331.4:c.22G>A, XM_011516331.3:c.22G>A, XM_011516331.2:c.22G>A, XM_011516331.1:c.22G>A, XM_011516332.4:c.22G>A, XM_011516332.3:c.22G>A, XM_011516332.2:c.22G>A, XM_011516332.1:c.22G>A, XM_011516325.3:c.22G>A, XM_011516325.2:c.22G>A, XM_011516325.1:c.22G>A, XM_011516327.3:c.22G>A, XM_011516327.2:c.22G>A, XM_011516327.1:c.22G>A, XM_017012350.3:c.22G>A, XM_017012350.2:c.22G>A, XM_017012350.1:c.22G>A, XM_017012351.3:c.22G>A, XM_017012351.2:c.22G>A, XM_017012351.1:c.22G>A, NR_146937.2:n.50G>A, NR_146937.1:n.101G>A, NM_001350896.2:c.22G>A, NM_001350896.1:c.22G>A, NR_146938.2:n.50G>A, NR_146938.1:n.101G>A, NM_001350897.2:c.22G>A, NM_001350897.1:c.22G>A, NM_001350898.2:c.22G>A, NM_001350898.1:c.22G>A, XM_017012346.2:c.-490G>A, XM_017012346.1:c.-490G>A, NM_001350899.2:c.22G>A, NM_001350899.1:c.22G>A, NM_001350900.2:c.-490G>A, NM_001350900.1:c.-490G>A, NM_001350901.2:c.-490G>A, NM_001350901.1:c.-490G>A, XR_001744817.2:n.50G>A, XR_001744817.1:n.114G>A, XM_047420487.1:c.22G>A, XM_047420488.1:c.22G>A, XM_047420489.1:c.22G>A, XR_007060056.1:n.50G>A, XM_047420495.1:c.22G>A, NP_059135.2:p.Asp8Asn, XP_011514633.1:p.Asp8Asn, XP_011514634.1:p.Asp8Asn, XP_011514627.1:p.Asp8Asn, XP_011514629.1:p.Asp8Asn, XP_016867839.1:p.Asp8Asn, XP_016867840.1:p.Asp8Asn, NP_001337825.1:p.Asp8Asn, NP_001337826.1:p.Asp8Asn, NP_001337827.1:p.Asp8Asn, NP_001337828.1:p.Asp8Asn, XP_047276443.1:p.Asp8Asn, XP_047276444.1:p.Asp8Asn, XP_047276445.1:p.Asp8Asn, XP_047276451.1:p.Asp8Asn

      3.

      rs1480709974 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:77355246 (GRCh38)
        7:76984563 (GRCh37)
        Canonical SPDI:
        NC_000007.14:77355245:G:A
        Gene:
        GSAP (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.77355246G>A, NC_000007.13:g.76984563G>A, NM_017439.4:c.1305C>T, NM_017439.3:c.1305C>T, XR_927479.4:n.1333C>T, XR_927479.3:n.1397C>T, XR_927479.2:n.1397C>T, XR_927479.1:n.1392C>T, XM_011516331.4:c.1305C>T, XM_011516331.3:c.1305C>T, XM_011516331.2:c.1305C>T, XM_011516331.1:c.1305C>T, XM_011516332.4:c.1305C>T, XM_011516332.3:c.1305C>T, XM_011516332.2:c.1305C>T, XM_011516332.1:c.1305C>T, XM_011516325.3:c.1305C>T, XM_011516325.2:c.1305C>T, XM_011516325.1:c.1305C>T, XM_011516327.3:c.1305C>T, XM_011516327.2:c.1305C>T, XM_011516327.1:c.1305C>T, XM_011516330.3:c.660C>T, XM_011516330.2:c.660C>T, XM_011516330.1:c.660C>T, XM_017012350.3:c.1305C>T, XM_017012350.2:c.1305C>T, XM_017012350.1:c.1305C>T, XM_017012351.3:c.1305C>T, XM_017012351.2:c.1305C>T, XM_017012351.1:c.1305C>T, NR_146937.2:n.1333C>T, NR_146937.1:n.1384C>T, NM_001350896.2:c.1305C>T, NM_001350896.1:c.1305C>T, NR_146938.2:n.1333C>T, NR_146938.1:n.1384C>T, NM_001350897.2:c.1305C>T, NM_001350897.1:c.1305C>T, NM_001350898.2:c.1248C>T, NM_001350898.1:c.1248C>T, XM_017012346.2:c.660C>T, XM_017012346.1:c.660C>T, NM_001350899.2:c.1305C>T, NM_001350899.1:c.1305C>T, NM_001350900.2:c.660C>T, NM_001350900.1:c.660C>T, NM_001350901.2:c.660C>T, NM_001350901.1:c.660C>T, XR_001744817.2:n.1333C>T, XR_001744817.1:n.1397C>T, XM_047420490.1:c.660C>T, XM_047420492.1:c.660C>T, XM_047420491.1:c.660C>T, XM_047420493.1:c.660C>T, XM_047420494.1:c.660C>T, XM_047420487.1:c.1305C>T, XM_047420488.1:c.1305C>T, XM_047420489.1:c.1305C>T, XR_007060056.1:n.1333C>T, XM_047420495.1:c.1305C>T

        4.

        rs1476364484 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          7:77377370 (GRCh38)
          7:77006688 (GRCh37)
          Canonical SPDI:
          NC_000007.14:77377370::C
          Gene:
          GSAP (Varview)
          Functional Consequence:
          non_coding_transcript_variant,frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000007.14:g.77377370_77377371insC, NC_000007.13:g.77006687_77006688insC, NM_017439.4:c.596_597insG, NM_017439.3:c.596_597insG, XR_927479.4:n.624_625insG, XR_927479.3:n.688_689insG, XR_927479.2:n.688_689insG, XR_927479.1:n.683_684insG, XM_011516331.4:c.596_597insG, XM_011516331.3:c.596_597insG, XM_011516331.2:c.596_597insG, XM_011516331.1:c.596_597insG, XM_011516332.4:c.596_597insG, XM_011516332.3:c.596_597insG, XM_011516332.2:c.596_597insG, XM_011516332.1:c.596_597insG, XM_011516325.3:c.596_597insG, XM_011516325.2:c.596_597insG, XM_011516325.1:c.596_597insG, XM_011516327.3:c.596_597insG, XM_011516327.2:c.596_597insG, XM_011516327.1:c.596_597insG, XM_011516330.3:c.-50_-49insG, XM_011516330.2:c.-50_-49insG, XM_011516330.1:c.-50_-49insG, XM_017012350.3:c.596_597insG, XM_017012350.2:c.596_597insG, XM_017012350.1:c.596_597insG, XM_017012351.3:c.596_597insG, XM_017012351.2:c.596_597insG, XM_017012351.1:c.596_597insG, NR_146937.2:n.624_625insG, NR_146937.1:n.675_676insG, NM_001350896.2:c.596_597insG, NM_001350896.1:c.596_597insG, NR_146938.2:n.624_625insG, NR_146938.1:n.675_676insG, NM_001350897.2:c.596_597insG, NM_001350897.1:c.596_597insG, NM_001350898.2:c.539_540insG, NM_001350898.1:c.539_540insG, XM_017012346.2:c.-50_-49insG, XM_017012346.1:c.-50_-49insG, NM_001350899.2:c.596_597insG, NM_001350899.1:c.596_597insG, NM_001350900.2:c.-50_-49insG, NM_001350900.1:c.-50_-49insG, NM_001350901.2:c.-50_-49insG, NM_001350901.1:c.-50_-49insG, XR_001744817.2:n.624_625insG, XR_001744817.1:n.688_689insG, XM_047420490.1:c.-50_-49insG, XM_047420492.1:c.-50_-49insG, XM_047420491.1:c.-50_-49insG, XM_047420493.1:c.-50_-49insG, XM_047420494.1:c.-50_-49insG, XM_047420487.1:c.596_597insG, XM_047420488.1:c.596_597insG, XM_047420489.1:c.596_597insG, XR_007060056.1:n.624_625insG, XM_047420495.1:c.596_597insG, NP_059135.2:p.His199fs, XP_011514633.1:p.His199fs, XP_011514634.1:p.His199fs, XP_011514627.1:p.His199fs, XP_011514629.1:p.His199fs, XP_016867839.1:p.His199fs, XP_016867840.1:p.His199fs, NP_001337825.1:p.His199fs, NP_001337826.1:p.His199fs, NP_001337827.1:p.His180fs, NP_001337828.1:p.His199fs, XP_047276443.1:p.His199fs, XP_047276444.1:p.His199fs, XP_047276445.1:p.His199fs, XP_047276451.1:p.His199fs

          5.

          rs1474691488 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            7:77404587 (GRCh38)
            7:77033904 (GRCh37)
            Canonical SPDI:
            NC_000007.14:77404586:A:G
            Gene:
            GSAP (Varview)
            Functional Consequence:
            coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000007.14:g.77404587A>G, NC_000007.13:g.77033904A>G, NM_017439.4:c.215T>C, NM_017439.3:c.215T>C, XR_927479.4:n.243T>C, XR_927479.3:n.307T>C, XR_927479.2:n.307T>C, XR_927479.1:n.302T>C, XM_011516331.4:c.215T>C, XM_011516331.3:c.215T>C, XM_011516331.2:c.215T>C, XM_011516331.1:c.215T>C, XM_011516332.4:c.215T>C, XM_011516332.3:c.215T>C, XM_011516332.2:c.215T>C, XM_011516332.1:c.215T>C, XM_011516325.3:c.215T>C, XM_011516325.2:c.215T>C, XM_011516325.1:c.215T>C, XM_011516327.3:c.215T>C, XM_011516327.2:c.215T>C, XM_011516327.1:c.215T>C, XM_017012350.3:c.215T>C, XM_017012350.2:c.215T>C, XM_017012350.1:c.215T>C, XM_017012351.3:c.215T>C, XM_017012351.2:c.215T>C, XM_017012351.1:c.215T>C, NR_146937.2:n.243T>C, NR_146937.1:n.294T>C, NM_001350896.2:c.215T>C, NM_001350896.1:c.215T>C, NR_146938.2:n.243T>C, NR_146938.1:n.294T>C, NM_001350897.2:c.215T>C, NM_001350897.1:c.215T>C, NM_001350899.2:c.215T>C, NM_001350899.1:c.215T>C, XR_001744817.2:n.243T>C, XR_001744817.1:n.307T>C, XM_047420490.1:c.-431T>C, XM_047420492.1:c.-501T>C, XM_047420491.1:c.-431T>C, XM_047420493.1:c.-431T>C, XM_047420494.1:c.-431T>C, XM_047420487.1:c.215T>C, XM_047420488.1:c.215T>C, XM_047420489.1:c.215T>C, XR_007060056.1:n.243T>C, XM_047420495.1:c.215T>C, NP_059135.2:p.Leu72Ser, XP_011514633.1:p.Leu72Ser, XP_011514634.1:p.Leu72Ser, XP_011514627.1:p.Leu72Ser, XP_011514629.1:p.Leu72Ser, XP_016867839.1:p.Leu72Ser, XP_016867840.1:p.Leu72Ser, NP_001337825.1:p.Leu72Ser, NP_001337826.1:p.Leu72Ser, NP_001337828.1:p.Leu72Ser, XP_047276443.1:p.Leu72Ser, XP_047276444.1:p.Leu72Ser, XP_047276445.1:p.Leu72Ser, XP_047276451.1:p.Leu72Ser

            6.

            rs1474363162 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              7:77416259 (GRCh38)
              7:77045576 (GRCh37)
              Canonical SPDI:
              NC_000007.14:77416258:C:T
              Gene:
              GSAP (Varview), LOC101927243 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_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_000007.14:g.77416259C>T, NC_000007.13:g.77045576C>T, NM_017439.4:c.63G>A, NM_017439.3:c.63G>A, XR_927479.4:n.91G>A, XR_927479.3:n.155G>A, XR_927479.2:n.155G>A, XR_927479.1:n.150G>A, XM_011516331.4:c.63G>A, XM_011516331.3:c.63G>A, XM_011516331.2:c.63G>A, XM_011516331.1:c.63G>A, XM_011516332.4:c.63G>A, XM_011516332.3:c.63G>A, XM_011516332.2:c.63G>A, XM_011516332.1:c.63G>A, XM_011516325.3:c.63G>A, XM_011516325.2:c.63G>A, XM_011516325.1:c.63G>A, XM_011516327.3:c.63G>A, XM_011516327.2:c.63G>A, XM_011516327.1:c.63G>A, XM_017012350.3:c.63G>A, XM_017012350.2:c.63G>A, XM_017012350.1:c.63G>A, XM_017012351.3:c.63G>A, XM_017012351.2:c.63G>A, XM_017012351.1:c.63G>A, NR_146937.2:n.91G>A, NR_146937.1:n.142G>A, NM_001350896.2:c.63G>A, NM_001350896.1:c.63G>A, NR_146938.2:n.91G>A, NR_146938.1:n.142G>A, NM_001350897.2:c.63G>A, NM_001350897.1:c.63G>A, NM_001350898.2:c.63G>A, NM_001350898.1:c.63G>A, XM_017012346.2:c.-449G>A, XM_017012346.1:c.-449G>A, NM_001350899.2:c.63G>A, NM_001350899.1:c.63G>A, NM_001350900.2:c.-449G>A, NM_001350900.1:c.-449G>A, NM_001350901.2:c.-449G>A, NM_001350901.1:c.-449G>A, XR_001744817.2:n.91G>A, XR_001744817.1:n.155G>A, XM_047420487.1:c.63G>A, XM_047420488.1:c.63G>A, XM_047420489.1:c.63G>A, XR_007060056.1:n.91G>A, XM_047420495.1:c.63G>A

              7.

              rs1473845189 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                7:77416280 (GRCh38)
                7:77045597 (GRCh37)
                Canonical SPDI:
                NC_000007.14:77416279:G:A
                Gene:
                GSAP (Varview), LOC101927243 (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000007.14:g.77416280G>A, NC_000007.13:g.77045597G>A, NM_017439.4:c.42C>T, NM_017439.3:c.42C>T, XR_927479.4:n.70C>T, XR_927479.3:n.134C>T, XR_927479.2:n.134C>T, XR_927479.1:n.129C>T, XM_011516331.4:c.42C>T, XM_011516331.3:c.42C>T, XM_011516331.2:c.42C>T, XM_011516331.1:c.42C>T, XM_011516332.4:c.42C>T, XM_011516332.3:c.42C>T, XM_011516332.2:c.42C>T, XM_011516332.1:c.42C>T, XM_011516325.3:c.42C>T, XM_011516325.2:c.42C>T, XM_011516325.1:c.42C>T, XM_011516327.3:c.42C>T, XM_011516327.2:c.42C>T, XM_011516327.1:c.42C>T, XM_017012350.3:c.42C>T, XM_017012350.2:c.42C>T, XM_017012350.1:c.42C>T, XM_017012351.3:c.42C>T, XM_017012351.2:c.42C>T, XM_017012351.1:c.42C>T, NR_146937.2:n.70C>T, NR_146937.1:n.121C>T, NM_001350896.2:c.42C>T, NM_001350896.1:c.42C>T, NR_146938.2:n.70C>T, NR_146938.1:n.121C>T, NM_001350897.2:c.42C>T, NM_001350897.1:c.42C>T, NM_001350898.2:c.42C>T, NM_001350898.1:c.42C>T, XM_017012346.2:c.-470C>T, XM_017012346.1:c.-470C>T, NM_001350899.2:c.42C>T, NM_001350899.1:c.42C>T, NM_001350900.2:c.-470C>T, NM_001350900.1:c.-470C>T, NM_001350901.2:c.-470C>T, NM_001350901.1:c.-470C>T, XR_001744817.2:n.70C>T, XR_001744817.1:n.134C>T, XM_047420487.1:c.42C>T, XM_047420488.1:c.42C>T, XM_047420489.1:c.42C>T, XR_007060056.1:n.70C>T, XM_047420495.1:c.42C>T

                8.

                rs1470050131 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  7:77353621 (GRCh38)
                  7:76982938 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:77353620:C:T
                  Gene:
                  GSAP (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000007.14:g.77353621C>T, NC_000007.13:g.76982938C>T, NM_017439.4:c.1359G>A, NM_017439.3:c.1359G>A, XR_927479.4:n.1441G>A, XR_927479.3:n.1505G>A, XR_927479.2:n.1505G>A, XR_927479.1:n.1500G>A, XM_011516331.4:c.1413G>A, XM_011516331.3:c.1413G>A, XM_011516331.2:c.1413G>A, XM_011516331.1:c.1413G>A, XM_011516332.4:c.1413G>A, XM_011516332.3:c.1413G>A, XM_011516332.2:c.1413G>A, XM_011516332.1:c.1413G>A, XM_011516325.3:c.1413G>A, XM_011516325.2:c.1413G>A, XM_011516325.1:c.1413G>A, XM_011516327.3:c.1413G>A, XM_011516327.2:c.1413G>A, XM_011516327.1:c.1413G>A, XM_011516330.3:c.768G>A, XM_011516330.2:c.768G>A, XM_011516330.1:c.768G>A, XM_017012350.3:c.1359G>A, XM_017012350.2:c.1359G>A, XM_017012350.1:c.1359G>A, NR_146937.2:n.1387G>A, NR_146937.1:n.1438G>A, NM_001350896.2:c.1413G>A, NM_001350896.1:c.1413G>A, NR_146938.2:n.1387G>A, NR_146938.1:n.1438G>A, NM_001350897.2:c.1359G>A, NM_001350897.1:c.1359G>A, NM_001350898.2:c.1302G>A, NM_001350898.1:c.1302G>A, XM_017012346.2:c.768G>A, XM_017012346.1:c.768G>A, NM_001350899.2:c.1359G>A, NM_001350899.1:c.1359G>A, NM_001350900.2:c.714G>A, NM_001350900.1:c.714G>A, NM_001350901.2:c.714G>A, NM_001350901.1:c.714G>A, XM_047420490.1:c.768G>A, XM_047420492.1:c.768G>A, XM_047420491.1:c.768G>A, XM_047420493.1:c.714G>A, XM_047420494.1:c.714G>A, XM_047420487.1:c.1359G>A, XM_047420488.1:c.1413G>A, XM_047420489.1:c.1413G>A, XR_007060056.1:n.1441G>A

                  9.

                  rs1468592639 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C [Show Flanks]
                    Chromosome:
                    7:77360865 (GRCh38)
                    7:76990182 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:77360864:A:C
                    Gene:
                    GSAP (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000007.14:g.77360865A>C, NC_000007.13:g.76990182A>C, NM_017439.4:c.986T>G, NM_017439.3:c.986T>G, XR_927479.4:n.1014T>G, XR_927479.3:n.1078T>G, XR_927479.2:n.1078T>G, XR_927479.1:n.1073T>G, XM_011516331.4:c.986T>G, XM_011516331.3:c.986T>G, XM_011516331.2:c.986T>G, XM_011516331.1:c.986T>G, XM_011516332.4:c.986T>G, XM_011516332.3:c.986T>G, XM_011516332.2:c.986T>G, XM_011516332.1:c.986T>G, XM_011516325.3:c.986T>G, XM_011516325.2:c.986T>G, XM_011516325.1:c.986T>G, XM_011516327.3:c.986T>G, XM_011516327.2:c.986T>G, XM_011516327.1:c.986T>G, XM_011516330.3:c.341T>G, XM_011516330.2:c.341T>G, XM_011516330.1:c.341T>G, XM_017012350.3:c.986T>G, XM_017012350.2:c.986T>G, XM_017012350.1:c.986T>G, XM_017012351.3:c.986T>G, XM_017012351.2:c.986T>G, XM_017012351.1:c.986T>G, NR_146937.2:n.1014T>G, NR_146937.1:n.1065T>G, NM_001350896.2:c.986T>G, NM_001350896.1:c.986T>G, NR_146938.2:n.1014T>G, NR_146938.1:n.1065T>G, NM_001350897.2:c.986T>G, NM_001350897.1:c.986T>G, NM_001350898.2:c.929T>G, NM_001350898.1:c.929T>G, XM_017012346.2:c.341T>G, XM_017012346.1:c.341T>G, NM_001350899.2:c.986T>G, NM_001350899.1:c.986T>G, NM_001350900.2:c.341T>G, NM_001350900.1:c.341T>G, NM_001350901.2:c.341T>G, NM_001350901.1:c.341T>G, XR_001744817.2:n.1014T>G, XR_001744817.1:n.1078T>G, XM_047420490.1:c.341T>G, XM_047420492.1:c.341T>G, XM_047420491.1:c.341T>G, XM_047420493.1:c.341T>G, XM_047420494.1:c.341T>G, XM_047420487.1:c.986T>G, XM_047420488.1:c.986T>G, XM_047420489.1:c.986T>G, XR_007060056.1:n.1014T>G, XM_047420495.1:c.986T>G, NP_059135.2:p.Val329Gly, XP_011514633.1:p.Val329Gly, XP_011514634.1:p.Val329Gly, XP_011514627.1:p.Val329Gly, XP_011514629.1:p.Val329Gly, XP_011514632.1:p.Val114Gly, XP_016867839.1:p.Val329Gly, XP_016867840.1:p.Val329Gly, NP_001337825.1:p.Val329Gly, NP_001337826.1:p.Val329Gly, NP_001337827.1:p.Val310Gly, XP_016867835.1:p.Val114Gly, NP_001337828.1:p.Val329Gly, NP_001337829.1:p.Val114Gly, NP_001337830.1:p.Val114Gly, XP_047276446.1:p.Val114Gly, XP_047276448.1:p.Val114Gly, XP_047276447.1:p.Val114Gly, XP_047276449.1:p.Val114Gly, XP_047276450.1:p.Val114Gly, XP_047276443.1:p.Val329Gly, XP_047276444.1:p.Val329Gly, XP_047276445.1:p.Val329Gly, XP_047276451.1:p.Val329Gly

                    10.

                    rs1468570533 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      7:77387410 (GRCh38)
                      7:77016727 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:77387409:C:A,NC_000007.14:77387409:C:T
                      Gene:
                      GSAP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.77387410C>A, NC_000007.14:g.77387410C>T, NC_000007.13:g.77016727C>A, NC_000007.13:g.77016727C>T, NM_017439.4:c.406G>T, NM_017439.4:c.406G>A, NM_017439.3:c.406G>T, NM_017439.3:c.406G>A, XR_927479.4:n.434G>T, XR_927479.4:n.434G>A, XR_927479.3:n.498G>T, XR_927479.3:n.498G>A, XR_927479.2:n.498G>T, XR_927479.2:n.498G>A, XR_927479.1:n.493G>T, XR_927479.1:n.493G>A, XM_011516331.4:c.406G>T, XM_011516331.4:c.406G>A, XM_011516331.3:c.406G>T, XM_011516331.3:c.406G>A, XM_011516331.2:c.406G>T, XM_011516331.2:c.406G>A, XM_011516331.1:c.406G>T, XM_011516331.1:c.406G>A, XM_011516332.4:c.406G>T, XM_011516332.4:c.406G>A, XM_011516332.3:c.406G>T, XM_011516332.3:c.406G>A, XM_011516332.2:c.406G>T, XM_011516332.2:c.406G>A, XM_011516332.1:c.406G>T, XM_011516332.1:c.406G>A, XM_011516325.3:c.406G>T, XM_011516325.3:c.406G>A, XM_011516325.2:c.406G>T, XM_011516325.2:c.406G>A, XM_011516325.1:c.406G>T, XM_011516325.1:c.406G>A, XM_011516327.3:c.406G>T, XM_011516327.3:c.406G>A, XM_011516327.2:c.406G>T, XM_011516327.2:c.406G>A, XM_011516327.1:c.406G>T, XM_011516327.1:c.406G>A, XM_017012350.3:c.406G>T, XM_017012350.3:c.406G>A, XM_017012350.2:c.406G>T, XM_017012350.2:c.406G>A, XM_017012350.1:c.406G>T, XM_017012350.1:c.406G>A, XM_017012351.3:c.406G>T, XM_017012351.3:c.406G>A, XM_017012351.2:c.406G>T, XM_017012351.2:c.406G>A, XM_017012351.1:c.406G>T, XM_017012351.1:c.406G>A, NR_146937.2:n.434G>T, NR_146937.2:n.434G>A, NR_146937.1:n.485G>T, NR_146937.1:n.485G>A, NM_001350896.2:c.406G>T, NM_001350896.2:c.406G>A, NM_001350896.1:c.406G>T, NM_001350896.1:c.406G>A, NR_146938.2:n.434G>T, NR_146938.2:n.434G>A, NR_146938.1:n.485G>T, NR_146938.1:n.485G>A, NM_001350897.2:c.406G>T, NM_001350897.2:c.406G>A, NM_001350897.1:c.406G>T, NM_001350897.1:c.406G>A, NM_001350898.2:c.349G>T, NM_001350898.2:c.349G>A, NM_001350898.1:c.349G>T, NM_001350898.1:c.349G>A, XM_017012346.2:c.-240G>T, XM_017012346.2:c.-240G>A, XM_017012346.1:c.-240G>T, XM_017012346.1:c.-240G>A, NM_001350899.2:c.406G>T, NM_001350899.2:c.406G>A, NM_001350899.1:c.406G>T, NM_001350899.1:c.406G>A, NM_001350900.2:c.-240G>T, NM_001350900.2:c.-240G>A, NM_001350900.1:c.-240G>T, NM_001350900.1:c.-240G>A, NM_001350901.2:c.-240G>T, NM_001350901.2:c.-240G>A, NM_001350901.1:c.-240G>T, NM_001350901.1:c.-240G>A, XR_001744817.2:n.434G>T, XR_001744817.2:n.434G>A, XR_001744817.1:n.498G>T, XR_001744817.1:n.498G>A, XM_047420490.1:c.-240G>T, XM_047420490.1:c.-240G>A, XM_047420492.1:c.-240G>T, XM_047420492.1:c.-240G>A, XM_047420491.1:c.-240G>T, XM_047420491.1:c.-240G>A, XM_047420493.1:c.-240G>T, XM_047420493.1:c.-240G>A, XM_047420494.1:c.-240G>T, XM_047420494.1:c.-240G>A, XM_047420487.1:c.406G>T, XM_047420487.1:c.406G>A, XM_047420488.1:c.406G>T, XM_047420488.1:c.406G>A, XM_047420489.1:c.406G>T, XM_047420489.1:c.406G>A, XR_007060056.1:n.434G>T, XR_007060056.1:n.434G>A, XM_047420495.1:c.406G>T, XM_047420495.1:c.406G>A, NP_059135.2:p.Val136Phe, NP_059135.2:p.Val136Ile, XP_011514633.1:p.Val136Phe, XP_011514633.1:p.Val136Ile, XP_011514634.1:p.Val136Phe, XP_011514634.1:p.Val136Ile, XP_011514627.1:p.Val136Phe, XP_011514627.1:p.Val136Ile, XP_011514629.1:p.Val136Phe, XP_011514629.1:p.Val136Ile, XP_016867839.1:p.Val136Phe, XP_016867839.1:p.Val136Ile, XP_016867840.1:p.Val136Phe, XP_016867840.1:p.Val136Ile, NP_001337825.1:p.Val136Phe, NP_001337825.1:p.Val136Ile, NP_001337826.1:p.Val136Phe, NP_001337826.1:p.Val136Ile, NP_001337827.1:p.Val117Phe, NP_001337827.1:p.Val117Ile, NP_001337828.1:p.Val136Phe, NP_001337828.1:p.Val136Ile, XP_047276443.1:p.Val136Phe, XP_047276443.1:p.Val136Ile, XP_047276444.1:p.Val136Phe, XP_047276444.1:p.Val136Ile, XP_047276445.1:p.Val136Phe, XP_047276445.1:p.Val136Ile, XP_047276451.1:p.Val136Phe, XP_047276451.1:p.Val136Ile

                      11.

                      rs1466587066 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        7:77397019 (GRCh38)
                        7:77026336 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:77397018:C:G
                        Gene:
                        GSAP (Varview)
                        Functional Consequence:
                        coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_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_000007.14:g.77397019C>G, NC_000007.13:g.77026336C>G, NM_017439.4:c.330G>C, NM_017439.3:c.330G>C, XR_927479.4:n.358G>C, XR_927479.3:n.422G>C, XR_927479.2:n.422G>C, XR_927479.1:n.417G>C, XM_011516331.4:c.330G>C, XM_011516331.3:c.330G>C, XM_011516331.2:c.330G>C, XM_011516331.1:c.330G>C, XM_011516332.4:c.330G>C, XM_011516332.3:c.330G>C, XM_011516332.2:c.330G>C, XM_011516332.1:c.330G>C, XM_011516325.3:c.330G>C, XM_011516325.2:c.330G>C, XM_011516325.1:c.330G>C, XM_011516327.3:c.330G>C, XM_011516327.2:c.330G>C, XM_011516327.1:c.330G>C, XM_017012350.3:c.330G>C, XM_017012350.2:c.330G>C, XM_017012350.1:c.330G>C, XM_017012351.3:c.330G>C, XM_017012351.2:c.330G>C, XM_017012351.1:c.330G>C, NR_146937.2:n.358G>C, NR_146937.1:n.409G>C, NM_001350896.2:c.330G>C, NM_001350896.1:c.330G>C, NR_146938.2:n.358G>C, NR_146938.1:n.409G>C, NM_001350897.2:c.330G>C, NM_001350897.1:c.330G>C, NM_001350898.2:c.273G>C, NM_001350898.1:c.273G>C, XM_017012346.2:c.-316G>C, XM_017012346.1:c.-316G>C, NM_001350899.2:c.330G>C, NM_001350899.1:c.330G>C, NM_001350900.2:c.-316G>C, NM_001350900.1:c.-316G>C, NM_001350901.2:c.-316G>C, NM_001350901.1:c.-316G>C, XR_001744817.2:n.358G>C, XR_001744817.1:n.422G>C, XM_047420490.1:c.-316G>C, XM_047420492.1:c.-316G>C, XM_047420491.1:c.-316G>C, XM_047420493.1:c.-316G>C, XM_047420494.1:c.-316G>C, XM_047420487.1:c.330G>C, XM_047420488.1:c.330G>C, XM_047420489.1:c.330G>C, XR_007060056.1:n.358G>C, XM_047420495.1:c.330G>C, NP_059135.2:p.Gln110His, XP_011514633.1:p.Gln110His, XP_011514634.1:p.Gln110His, XP_011514627.1:p.Gln110His, XP_011514629.1:p.Gln110His, XP_016867839.1:p.Gln110His, XP_016867840.1:p.Gln110His, NP_001337825.1:p.Gln110His, NP_001337826.1:p.Gln110His, NP_001337827.1:p.Gln91His, NP_001337828.1:p.Gln110His, XP_047276443.1:p.Gln110His, XP_047276444.1:p.Gln110His, XP_047276445.1:p.Gln110His, XP_047276451.1:p.Gln110His

                        12.

                        rs1465726841 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          7:77374078 (GRCh38)
                          7:77003395 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:77374077:T:A
                          Gene:
                          GSAP (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.77374078T>A, NC_000007.13:g.77003395T>A, NM_017439.4:c.863A>T, NM_017439.3:c.863A>T, XR_927479.4:n.891A>T, XR_927479.3:n.955A>T, XR_927479.2:n.955A>T, XR_927479.1:n.950A>T, XM_011516331.4:c.863A>T, XM_011516331.3:c.863A>T, XM_011516331.2:c.863A>T, XM_011516331.1:c.863A>T, XM_011516332.4:c.863A>T, XM_011516332.3:c.863A>T, XM_011516332.2:c.863A>T, XM_011516332.1:c.863A>T, XM_011516325.3:c.863A>T, XM_011516325.2:c.863A>T, XM_011516325.1:c.863A>T, XM_011516327.3:c.863A>T, XM_011516327.2:c.863A>T, XM_011516327.1:c.863A>T, XM_011516330.3:c.218A>T, XM_011516330.2:c.218A>T, XM_011516330.1:c.218A>T, XM_017012350.3:c.863A>T, XM_017012350.2:c.863A>T, XM_017012350.1:c.863A>T, XM_017012351.3:c.863A>T, XM_017012351.2:c.863A>T, XM_017012351.1:c.863A>T, NR_146937.2:n.891A>T, NR_146937.1:n.942A>T, NM_001350896.2:c.863A>T, NM_001350896.1:c.863A>T, NR_146938.2:n.891A>T, NR_146938.1:n.942A>T, NM_001350897.2:c.863A>T, NM_001350897.1:c.863A>T, NM_001350898.2:c.806A>T, NM_001350898.1:c.806A>T, XM_017012346.2:c.218A>T, XM_017012346.1:c.218A>T, NM_001350899.2:c.863A>T, NM_001350899.1:c.863A>T, NM_001350900.2:c.218A>T, NM_001350900.1:c.218A>T, NM_001350901.2:c.218A>T, NM_001350901.1:c.218A>T, XR_001744817.2:n.891A>T, XR_001744817.1:n.955A>T, XM_047420490.1:c.218A>T, XM_047420492.1:c.218A>T, XM_047420491.1:c.218A>T, XM_047420493.1:c.218A>T, XM_047420494.1:c.218A>T, XM_047420487.1:c.863A>T, XM_047420488.1:c.863A>T, XM_047420489.1:c.863A>T, XR_007060056.1:n.891A>T, XM_047420495.1:c.863A>T, NP_059135.2:p.Asn288Ile, XP_011514633.1:p.Asn288Ile, XP_011514634.1:p.Asn288Ile, XP_011514627.1:p.Asn288Ile, XP_011514629.1:p.Asn288Ile, XP_011514632.1:p.Asn73Ile, XP_016867839.1:p.Asn288Ile, XP_016867840.1:p.Asn288Ile, NP_001337825.1:p.Asn288Ile, NP_001337826.1:p.Asn288Ile, NP_001337827.1:p.Asn269Ile, XP_016867835.1:p.Asn73Ile, NP_001337828.1:p.Asn288Ile, NP_001337829.1:p.Asn73Ile, NP_001337830.1:p.Asn73Ile, XP_047276446.1:p.Asn73Ile, XP_047276448.1:p.Asn73Ile, XP_047276447.1:p.Asn73Ile, XP_047276449.1:p.Asn73Ile, XP_047276450.1:p.Asn73Ile, XP_047276443.1:p.Asn288Ile, XP_047276444.1:p.Asn288Ile, XP_047276445.1:p.Asn288Ile, XP_047276451.1:p.Asn288Ile

                          13.

                          rs1464178358 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            G>- [Show Flanks]
                            Chromosome:
                            7:77404567 (GRCh38)
                            7:77033884 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:77404566:G:
                            Gene:
                            GSAP (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:
                            NC_000007.14:g.77404567del, NC_000007.13:g.77033884del, NM_017439.4:c.235del, NM_017439.3:c.235del, XR_927479.4:n.263del, XR_927479.3:n.327del, XR_927479.2:n.327del, XR_927479.1:n.322del, XM_011516331.4:c.235del, XM_011516331.3:c.235del, XM_011516331.2:c.235del, XM_011516331.1:c.235del, XM_011516332.4:c.235del, XM_011516332.3:c.235del, XM_011516332.2:c.235del, XM_011516332.1:c.235del, XM_011516325.3:c.235del, XM_011516325.2:c.235del, XM_011516325.1:c.235del, XM_011516327.3:c.235del, XM_011516327.2:c.235del, XM_011516327.1:c.235del, XM_017012350.3:c.235del, XM_017012350.2:c.235del, XM_017012350.1:c.235del, XM_017012351.3:c.235del, XM_017012351.2:c.235del, XM_017012351.1:c.235del, NR_146937.2:n.263del, NR_146937.1:n.314del, NM_001350896.2:c.235del, NM_001350896.1:c.235del, NR_146938.2:n.263del, NR_146938.1:n.314del, NM_001350897.2:c.235del, NM_001350897.1:c.235del, NM_001350899.2:c.235del, NM_001350899.1:c.235del, XR_001744817.2:n.263del, XR_001744817.1:n.327del, XM_047420490.1:c.-411del, XM_047420492.1:c.-481del, XM_047420491.1:c.-411del, XM_047420493.1:c.-411del, XM_047420494.1:c.-411del, XM_047420487.1:c.235del, XM_047420488.1:c.235del, XM_047420489.1:c.235del, XR_007060056.1:n.263del, XM_047420495.1:c.235del, NP_059135.2:p.Gln79fs, XP_011514633.1:p.Gln79fs, XP_011514634.1:p.Gln79fs, XP_011514627.1:p.Gln79fs, XP_011514629.1:p.Gln79fs, XP_016867839.1:p.Gln79fs, XP_016867840.1:p.Gln79fs, NP_001337825.1:p.Gln79fs, NP_001337826.1:p.Gln79fs, NP_001337828.1:p.Gln79fs, XP_047276443.1:p.Gln79fs, XP_047276444.1:p.Gln79fs, XP_047276445.1:p.Gln79fs, XP_047276451.1:p.Gln79fs

                            14.

                            rs1464136680 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              7:77377347 (GRCh38)
                              7:77006664 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:77377346:T:G
                              Gene:
                              GSAP (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.77377347T>G, NC_000007.13:g.77006664T>G, NM_017439.4:c.620A>C, NM_017439.3:c.620A>C, XR_927479.4:n.648A>C, XR_927479.3:n.712A>C, XR_927479.2:n.712A>C, XR_927479.1:n.707A>C, XM_011516331.4:c.620A>C, XM_011516331.3:c.620A>C, XM_011516331.2:c.620A>C, XM_011516331.1:c.620A>C, XM_011516332.4:c.620A>C, XM_011516332.3:c.620A>C, XM_011516332.2:c.620A>C, XM_011516332.1:c.620A>C, XM_011516325.3:c.620A>C, XM_011516325.2:c.620A>C, XM_011516325.1:c.620A>C, XM_011516327.3:c.620A>C, XM_011516327.2:c.620A>C, XM_011516327.1:c.620A>C, XM_011516330.3:c.-26A>C, XM_011516330.2:c.-26A>C, XM_011516330.1:c.-26A>C, XM_017012350.3:c.620A>C, XM_017012350.2:c.620A>C, XM_017012350.1:c.620A>C, XM_017012351.3:c.620A>C, XM_017012351.2:c.620A>C, XM_017012351.1:c.620A>C, NR_146937.2:n.648A>C, NR_146937.1:n.699A>C, NM_001350896.2:c.620A>C, NM_001350896.1:c.620A>C, NR_146938.2:n.648A>C, NR_146938.1:n.699A>C, NM_001350897.2:c.620A>C, NM_001350897.1:c.620A>C, NM_001350898.2:c.563A>C, NM_001350898.1:c.563A>C, XM_017012346.2:c.-26A>C, XM_017012346.1:c.-26A>C, NM_001350899.2:c.620A>C, NM_001350899.1:c.620A>C, NM_001350900.2:c.-26A>C, NM_001350900.1:c.-26A>C, NM_001350901.2:c.-26A>C, NM_001350901.1:c.-26A>C, XR_001744817.2:n.648A>C, XR_001744817.1:n.712A>C, XM_047420490.1:c.-26A>C, XM_047420492.1:c.-26A>C, XM_047420491.1:c.-26A>C, XM_047420493.1:c.-26A>C, XM_047420494.1:c.-26A>C, XM_047420487.1:c.620A>C, XM_047420488.1:c.620A>C, XM_047420489.1:c.620A>C, XR_007060056.1:n.648A>C, XM_047420495.1:c.620A>C, NP_059135.2:p.Glu207Ala, XP_011514633.1:p.Glu207Ala, XP_011514634.1:p.Glu207Ala, XP_011514627.1:p.Glu207Ala, XP_011514629.1:p.Glu207Ala, XP_016867839.1:p.Glu207Ala, XP_016867840.1:p.Glu207Ala, NP_001337825.1:p.Glu207Ala, NP_001337826.1:p.Glu207Ala, NP_001337827.1:p.Glu188Ala, NP_001337828.1:p.Glu207Ala, XP_047276443.1:p.Glu207Ala, XP_047276444.1:p.Glu207Ala, XP_047276445.1:p.Glu207Ala, XP_047276451.1:p.Glu207Ala

                              15.

                              rs1462197789 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C,T [Show Flanks]
                                Chromosome:
                                7:77397388 (GRCh38)
                                7:77026705 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:77397387:G:C,NC_000007.14:77397387:G:T
                                Gene:
                                GSAP (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000007.14:g.77397388G>C, NC_000007.14:g.77397388G>T, NC_000007.13:g.77026705G>C, NC_000007.13:g.77026705G>T, NM_017439.4:c.271C>G, NM_017439.4:c.271C>A, NM_017439.3:c.271C>G, NM_017439.3:c.271C>A, XR_927479.4:n.299C>G, XR_927479.4:n.299C>A, XR_927479.3:n.363C>G, XR_927479.3:n.363C>A, XR_927479.2:n.363C>G, XR_927479.2:n.363C>A, XR_927479.1:n.358C>G, XR_927479.1:n.358C>A, XM_011516331.4:c.271C>G, XM_011516331.4:c.271C>A, XM_011516331.3:c.271C>G, XM_011516331.3:c.271C>A, XM_011516331.2:c.271C>G, XM_011516331.2:c.271C>A, XM_011516331.1:c.271C>G, XM_011516331.1:c.271C>A, XM_011516332.4:c.271C>G, XM_011516332.4:c.271C>A, XM_011516332.3:c.271C>G, XM_011516332.3:c.271C>A, XM_011516332.2:c.271C>G, XM_011516332.2:c.271C>A, XM_011516332.1:c.271C>G, XM_011516332.1:c.271C>A, XM_011516325.3:c.271C>G, XM_011516325.3:c.271C>A, XM_011516325.2:c.271C>G, XM_011516325.2:c.271C>A, XM_011516325.1:c.271C>G, XM_011516325.1:c.271C>A, XM_011516327.3:c.271C>G, XM_011516327.3:c.271C>A, XM_011516327.2:c.271C>G, XM_011516327.2:c.271C>A, XM_011516327.1:c.271C>G, XM_011516327.1:c.271C>A, XM_017012350.3:c.271C>G, XM_017012350.3:c.271C>A, XM_017012350.2:c.271C>G, XM_017012350.2:c.271C>A, XM_017012350.1:c.271C>G, XM_017012350.1:c.271C>A, XM_017012351.3:c.271C>G, XM_017012351.3:c.271C>A, XM_017012351.2:c.271C>G, XM_017012351.2:c.271C>A, XM_017012351.1:c.271C>G, XM_017012351.1:c.271C>A, NR_146937.2:n.299C>G, NR_146937.2:n.299C>A, NR_146937.1:n.350C>G, NR_146937.1:n.350C>A, NM_001350896.2:c.271C>G, NM_001350896.2:c.271C>A, NM_001350896.1:c.271C>G, NM_001350896.1:c.271C>A, NR_146938.2:n.299C>G, NR_146938.2:n.299C>A, NR_146938.1:n.350C>G, NR_146938.1:n.350C>A, NM_001350897.2:c.271C>G, NM_001350897.2:c.271C>A, NM_001350897.1:c.271C>G, NM_001350897.1:c.271C>A, NM_001350898.2:c.214C>G, NM_001350898.2:c.214C>A, NM_001350898.1:c.214C>G, NM_001350898.1:c.214C>A, XM_017012346.2:c.-375C>G, XM_017012346.2:c.-375C>A, XM_017012346.1:c.-375C>G, XM_017012346.1:c.-375C>A, NM_001350899.2:c.271C>G, NM_001350899.2:c.271C>A, NM_001350899.1:c.271C>G, NM_001350899.1:c.271C>A, NM_001350900.2:c.-375C>G, NM_001350900.2:c.-375C>A, NM_001350900.1:c.-375C>G, NM_001350900.1:c.-375C>A, NM_001350901.2:c.-375C>G, NM_001350901.2:c.-375C>A, NM_001350901.1:c.-375C>G, NM_001350901.1:c.-375C>A, XR_001744817.2:n.299C>G, XR_001744817.2:n.299C>A, XR_001744817.1:n.363C>G, XR_001744817.1:n.363C>A, XM_047420490.1:c.-375C>G, XM_047420490.1:c.-375C>A, XM_047420492.1:c.-375C>G, XM_047420492.1:c.-375C>A, XM_047420491.1:c.-375C>G, XM_047420491.1:c.-375C>A, XM_047420493.1:c.-375C>G, XM_047420493.1:c.-375C>A, XM_047420494.1:c.-375C>G, XM_047420494.1:c.-375C>A, XM_047420487.1:c.271C>G, XM_047420487.1:c.271C>A, XM_047420488.1:c.271C>G, XM_047420488.1:c.271C>A, XM_047420489.1:c.271C>G, XM_047420489.1:c.271C>A, XR_007060056.1:n.299C>G, XR_007060056.1:n.299C>A, XM_047420495.1:c.271C>G, XM_047420495.1:c.271C>A, NP_059135.2:p.Gln91Glu, NP_059135.2:p.Gln91Lys, XP_011514633.1:p.Gln91Glu, XP_011514633.1:p.Gln91Lys, XP_011514634.1:p.Gln91Glu, XP_011514634.1:p.Gln91Lys, XP_011514627.1:p.Gln91Glu, XP_011514627.1:p.Gln91Lys, XP_011514629.1:p.Gln91Glu, XP_011514629.1:p.Gln91Lys, XP_016867839.1:p.Gln91Glu, XP_016867839.1:p.Gln91Lys, XP_016867840.1:p.Gln91Glu, XP_016867840.1:p.Gln91Lys, NP_001337825.1:p.Gln91Glu, NP_001337825.1:p.Gln91Lys, NP_001337826.1:p.Gln91Glu, NP_001337826.1:p.Gln91Lys, NP_001337827.1:p.Gln72Glu, NP_001337827.1:p.Gln72Lys, NP_001337828.1:p.Gln91Glu, NP_001337828.1:p.Gln91Lys, XP_047276443.1:p.Gln91Glu, XP_047276443.1:p.Gln91Lys, XP_047276444.1:p.Gln91Glu, XP_047276444.1:p.Gln91Lys, XP_047276445.1:p.Gln91Glu, XP_047276445.1:p.Gln91Lys, XP_047276451.1:p.Gln91Glu, XP_047276451.1:p.Gln91Lys

                                16.

                                rs1461698049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  7:77382641 (GRCh38)
                                  7:77011958 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:77382640:A:C
                                  Gene:
                                  GSAP (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000007.14:g.77382641A>C, NC_000007.13:g.77011958A>C, NM_017439.4:c.459T>G, NM_017439.3:c.459T>G, XR_927479.4:n.487T>G, XR_927479.3:n.551T>G, XR_927479.2:n.551T>G, XR_927479.1:n.546T>G, XM_011516331.4:c.459T>G, XM_011516331.3:c.459T>G, XM_011516331.2:c.459T>G, XM_011516331.1:c.459T>G, XM_011516332.4:c.459T>G, XM_011516332.3:c.459T>G, XM_011516332.2:c.459T>G, XM_011516332.1:c.459T>G, XM_011516325.3:c.459T>G, XM_011516325.2:c.459T>G, XM_011516325.1:c.459T>G, XM_011516327.3:c.459T>G, XM_011516327.2:c.459T>G, XM_011516327.1:c.459T>G, XM_017012350.3:c.459T>G, XM_017012350.2:c.459T>G, XM_017012350.1:c.459T>G, XM_017012351.3:c.459T>G, XM_017012351.2:c.459T>G, XM_017012351.1:c.459T>G, NR_146937.2:n.487T>G, NR_146937.1:n.538T>G, NM_001350896.2:c.459T>G, NM_001350896.1:c.459T>G, NR_146938.2:n.487T>G, NR_146938.1:n.538T>G, NM_001350897.2:c.459T>G, NM_001350897.1:c.459T>G, NM_001350898.2:c.402T>G, NM_001350898.1:c.402T>G, XM_017012346.2:c.-187T>G, XM_017012346.1:c.-187T>G, NM_001350899.2:c.459T>G, NM_001350899.1:c.459T>G, NM_001350900.2:c.-187T>G, NM_001350900.1:c.-187T>G, NM_001350901.2:c.-187T>G, NM_001350901.1:c.-187T>G, XR_001744817.2:n.487T>G, XR_001744817.1:n.551T>G, XM_047420490.1:c.-187T>G, XM_047420492.1:c.-187T>G, XM_047420491.1:c.-187T>G, XM_047420493.1:c.-187T>G, XM_047420494.1:c.-187T>G, XM_047420487.1:c.459T>G, XM_047420488.1:c.459T>G, XM_047420489.1:c.459T>G, XR_007060056.1:n.487T>G, XM_047420495.1:c.459T>G, NP_059135.2:p.Phe153Leu, XP_011514633.1:p.Phe153Leu, XP_011514634.1:p.Phe153Leu, XP_011514627.1:p.Phe153Leu, XP_011514629.1:p.Phe153Leu, XP_016867839.1:p.Phe153Leu, XP_016867840.1:p.Phe153Leu, NP_001337825.1:p.Phe153Leu, NP_001337826.1:p.Phe153Leu, NP_001337827.1:p.Phe134Leu, NP_001337828.1:p.Phe153Leu, XP_047276443.1:p.Phe153Leu, XP_047276444.1:p.Phe153Leu, XP_047276445.1:p.Phe153Leu, XP_047276451.1:p.Phe153Leu

                                  17.

                                  rs1459757088 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    7:77355422 (GRCh38)
                                    7:76984739 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:77355421:C:A
                                    Gene:
                                    GSAP (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,stop_gained
                                    Validated:
                                    by cluster
                                    HGVS:
                                    NC_000007.14:g.77355422C>A, NC_000007.13:g.76984739C>A, NM_017439.4:c.1129G>T, NM_017439.3:c.1129G>T, XR_927479.4:n.1157G>T, XR_927479.3:n.1221G>T, XR_927479.2:n.1221G>T, XR_927479.1:n.1216G>T, XM_011516331.4:c.1129G>T, XM_011516331.3:c.1129G>T, XM_011516331.2:c.1129G>T, XM_011516331.1:c.1129G>T, XM_011516332.4:c.1129G>T, XM_011516332.3:c.1129G>T, XM_011516332.2:c.1129G>T, XM_011516332.1:c.1129G>T, XM_011516325.3:c.1129G>T, XM_011516325.2:c.1129G>T, XM_011516325.1:c.1129G>T, XM_011516327.3:c.1129G>T, XM_011516327.2:c.1129G>T, XM_011516327.1:c.1129G>T, XM_011516330.3:c.484G>T, XM_011516330.2:c.484G>T, XM_011516330.1:c.484G>T, XM_017012350.3:c.1129G>T, XM_017012350.2:c.1129G>T, XM_017012350.1:c.1129G>T, XM_017012351.3:c.1129G>T, XM_017012351.2:c.1129G>T, XM_017012351.1:c.1129G>T, NR_146937.2:n.1157G>T, NR_146937.1:n.1208G>T, NM_001350896.2:c.1129G>T, NM_001350896.1:c.1129G>T, NR_146938.2:n.1157G>T, NR_146938.1:n.1208G>T, NM_001350897.2:c.1129G>T, NM_001350897.1:c.1129G>T, NM_001350898.2:c.1072G>T, NM_001350898.1:c.1072G>T, XM_017012346.2:c.484G>T, XM_017012346.1:c.484G>T, NM_001350899.2:c.1129G>T, NM_001350899.1:c.1129G>T, NM_001350900.2:c.484G>T, NM_001350900.1:c.484G>T, NM_001350901.2:c.484G>T, NM_001350901.1:c.484G>T, XR_001744817.2:n.1157G>T, XR_001744817.1:n.1221G>T, XM_047420490.1:c.484G>T, XM_047420492.1:c.484G>T, XM_047420491.1:c.484G>T, XM_047420493.1:c.484G>T, XM_047420494.1:c.484G>T, XM_047420487.1:c.1129G>T, XM_047420488.1:c.1129G>T, XM_047420489.1:c.1129G>T, XR_007060056.1:n.1157G>T, XM_047420495.1:c.1129G>T, NP_059135.2:p.Glu377Ter, XP_011514633.1:p.Glu377Ter, XP_011514634.1:p.Glu377Ter, XP_011514627.1:p.Glu377Ter, XP_011514629.1:p.Glu377Ter, XP_011514632.1:p.Glu162Ter, XP_016867839.1:p.Glu377Ter, XP_016867840.1:p.Glu377Ter, NP_001337825.1:p.Glu377Ter, NP_001337826.1:p.Glu377Ter, NP_001337827.1:p.Glu358Ter, XP_016867835.1:p.Glu162Ter, NP_001337828.1:p.Glu377Ter, NP_001337829.1:p.Glu162Ter, NP_001337830.1:p.Glu162Ter, XP_047276446.1:p.Glu162Ter, XP_047276448.1:p.Glu162Ter, XP_047276447.1:p.Glu162Ter, XP_047276449.1:p.Glu162Ter, XP_047276450.1:p.Glu162Ter, XP_047276443.1:p.Glu377Ter, XP_047276444.1:p.Glu377Ter, XP_047276445.1:p.Glu377Ter, XP_047276451.1:p.Glu377Ter

                                    18.

                                    rs1456945110 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      7:77377375 (GRCh38)
                                      7:77006692 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:77377374:C:A
                                      Gene:
                                      GSAP (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.00084/10 (ALFA)
                                      A=0.03767/110 (KOREAN)
                                      HGVS:
                                      NC_000007.14:g.77377375C>A, NC_000007.13:g.77006692C>A, NM_017439.4:c.592G>T, NM_017439.3:c.592G>T, XR_927479.4:n.620G>T, XR_927479.3:n.684G>T, XR_927479.2:n.684G>T, XR_927479.1:n.679G>T, XM_011516331.4:c.592G>T, XM_011516331.3:c.592G>T, XM_011516331.2:c.592G>T, XM_011516331.1:c.592G>T, XM_011516332.4:c.592G>T, XM_011516332.3:c.592G>T, XM_011516332.2:c.592G>T, XM_011516332.1:c.592G>T, XM_011516325.3:c.592G>T, XM_011516325.2:c.592G>T, XM_011516325.1:c.592G>T, XM_011516327.3:c.592G>T, XM_011516327.2:c.592G>T, XM_011516327.1:c.592G>T, XM_011516330.3:c.-54G>T, XM_011516330.2:c.-54G>T, XM_011516330.1:c.-54G>T, XM_017012350.3:c.592G>T, XM_017012350.2:c.592G>T, XM_017012350.1:c.592G>T, XM_017012351.3:c.592G>T, XM_017012351.2:c.592G>T, XM_017012351.1:c.592G>T, NR_146937.2:n.620G>T, NR_146937.1:n.671G>T, NM_001350896.2:c.592G>T, NM_001350896.1:c.592G>T, NR_146938.2:n.620G>T, NR_146938.1:n.671G>T, NM_001350897.2:c.592G>T, NM_001350897.1:c.592G>T, NM_001350898.2:c.535G>T, NM_001350898.1:c.535G>T, XM_017012346.2:c.-54G>T, XM_017012346.1:c.-54G>T, NM_001350899.2:c.592G>T, NM_001350899.1:c.592G>T, NM_001350900.2:c.-54G>T, NM_001350900.1:c.-54G>T, NM_001350901.2:c.-54G>T, NM_001350901.1:c.-54G>T, XR_001744817.2:n.620G>T, XR_001744817.1:n.684G>T, XM_047420490.1:c.-54G>T, XM_047420492.1:c.-54G>T, XM_047420491.1:c.-54G>T, XM_047420493.1:c.-54G>T, XM_047420494.1:c.-54G>T, XM_047420487.1:c.592G>T, XM_047420488.1:c.592G>T, XM_047420489.1:c.592G>T, XR_007060056.1:n.620G>T, XM_047420495.1:c.592G>T, NP_059135.2:p.Gly198Cys, XP_011514633.1:p.Gly198Cys, XP_011514634.1:p.Gly198Cys, XP_011514627.1:p.Gly198Cys, XP_011514629.1:p.Gly198Cys, XP_016867839.1:p.Gly198Cys, XP_016867840.1:p.Gly198Cys, NP_001337825.1:p.Gly198Cys, NP_001337826.1:p.Gly198Cys, NP_001337827.1:p.Gly179Cys, NP_001337828.1:p.Gly198Cys, XP_047276443.1:p.Gly198Cys, XP_047276444.1:p.Gly198Cys, XP_047276445.1:p.Gly198Cys, XP_047276451.1:p.Gly198Cys

                                      19.

                                      rs1455528742 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        7:77397374 (GRCh38)
                                        7:77026691 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:77397373:G:A
                                        Gene:
                                        GSAP (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        HGVS:
                                        NC_000007.14:g.77397374G>A, NC_000007.13:g.77026691G>A, NM_017439.4:c.285C>T, NM_017439.3:c.285C>T, XR_927479.4:n.313C>T, XR_927479.3:n.377C>T, XR_927479.2:n.377C>T, XR_927479.1:n.372C>T, XM_011516331.4:c.285C>T, XM_011516331.3:c.285C>T, XM_011516331.2:c.285C>T, XM_011516331.1:c.285C>T, XM_011516332.4:c.285C>T, XM_011516332.3:c.285C>T, XM_011516332.2:c.285C>T, XM_011516332.1:c.285C>T, XM_011516325.3:c.285C>T, XM_011516325.2:c.285C>T, XM_011516325.1:c.285C>T, XM_011516327.3:c.285C>T, XM_011516327.2:c.285C>T, XM_011516327.1:c.285C>T, XM_017012350.3:c.285C>T, XM_017012350.2:c.285C>T, XM_017012350.1:c.285C>T, XM_017012351.3:c.285C>T, XM_017012351.2:c.285C>T, XM_017012351.1:c.285C>T, NR_146937.2:n.313C>T, NR_146937.1:n.364C>T, NM_001350896.2:c.285C>T, NM_001350896.1:c.285C>T, NR_146938.2:n.313C>T, NR_146938.1:n.364C>T, NM_001350897.2:c.285C>T, NM_001350897.1:c.285C>T, NM_001350898.2:c.228C>T, NM_001350898.1:c.228C>T, XM_017012346.2:c.-361C>T, XM_017012346.1:c.-361C>T, NM_001350899.2:c.285C>T, NM_001350899.1:c.285C>T, NM_001350900.2:c.-361C>T, NM_001350900.1:c.-361C>T, NM_001350901.2:c.-361C>T, NM_001350901.1:c.-361C>T, XR_001744817.2:n.313C>T, XR_001744817.1:n.377C>T, XM_047420490.1:c.-361C>T, XM_047420492.1:c.-361C>T, XM_047420491.1:c.-361C>T, XM_047420493.1:c.-361C>T, XM_047420494.1:c.-361C>T, XM_047420487.1:c.285C>T, XM_047420488.1:c.285C>T, XM_047420489.1:c.285C>T, XR_007060056.1:n.313C>T, XM_047420495.1:c.285C>T

                                        20.

                                        rs1455079307 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          7:77406096 (GRCh38)
                                          7:77035413 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:77406095:T:A,NC_000007.14:77406095:T:C
                                          Gene:
                                          GSAP (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.00005/1 (ALFA)
                                          HGVS:
                                          NC_000007.14:g.77406096T>A, NC_000007.14:g.77406096T>C, NC_000007.13:g.77035413T>A, NC_000007.13:g.77035413T>C, NM_017439.4:c.119A>T, NM_017439.4:c.119A>G, NM_017439.3:c.119A>T, NM_017439.3:c.119A>G, XR_927479.4:n.147A>T, XR_927479.4:n.147A>G, XR_927479.3:n.211A>T, XR_927479.3:n.211A>G, XR_927479.2:n.211A>T, XR_927479.2:n.211A>G, XR_927479.1:n.206A>T, XR_927479.1:n.206A>G, XM_011516331.4:c.119A>T, XM_011516331.4:c.119A>G, XM_011516331.3:c.119A>T, XM_011516331.3:c.119A>G, XM_011516331.2:c.119A>T, XM_011516331.2:c.119A>G, XM_011516331.1:c.119A>T, XM_011516331.1:c.119A>G, XM_011516332.4:c.119A>T, XM_011516332.4:c.119A>G, XM_011516332.3:c.119A>T, XM_011516332.3:c.119A>G, XM_011516332.2:c.119A>T, XM_011516332.2:c.119A>G, XM_011516332.1:c.119A>T, XM_011516332.1:c.119A>G, XM_011516325.3:c.119A>T, XM_011516325.3:c.119A>G, XM_011516325.2:c.119A>T, XM_011516325.2:c.119A>G, XM_011516325.1:c.119A>T, XM_011516325.1:c.119A>G, XM_011516327.3:c.119A>T, XM_011516327.3:c.119A>G, XM_011516327.2:c.119A>T, XM_011516327.2:c.119A>G, XM_011516327.1:c.119A>T, XM_011516327.1:c.119A>G, XM_017012350.3:c.119A>T, XM_017012350.3:c.119A>G, XM_017012350.2:c.119A>T, XM_017012350.2:c.119A>G, XM_017012350.1:c.119A>T, XM_017012350.1:c.119A>G, XM_017012351.3:c.119A>T, XM_017012351.3:c.119A>G, XM_017012351.2:c.119A>T, XM_017012351.2:c.119A>G, XM_017012351.1:c.119A>T, XM_017012351.1:c.119A>G, NR_146937.2:n.147A>T, NR_146937.2:n.147A>G, NR_146937.1:n.198A>T, NR_146937.1:n.198A>G, NM_001350896.2:c.119A>T, NM_001350896.2:c.119A>G, NM_001350896.1:c.119A>T, NM_001350896.1:c.119A>G, NR_146938.2:n.147A>T, NR_146938.2:n.147A>G, NR_146938.1:n.198A>T, NR_146938.1:n.198A>G, NM_001350897.2:c.119A>T, NM_001350897.2:c.119A>G, NM_001350897.1:c.119A>T, NM_001350897.1:c.119A>G, NM_001350898.2:c.119A>T, NM_001350898.2:c.119A>G, NM_001350898.1:c.119A>T, NM_001350898.1:c.119A>G, NM_001350899.2:c.119A>T, NM_001350899.2:c.119A>G, NM_001350899.1:c.119A>T, NM_001350899.1:c.119A>G, XR_001744817.2:n.147A>T, XR_001744817.2:n.147A>G, XR_001744817.1:n.211A>T, XR_001744817.1:n.211A>G, XM_047420490.1:c.-527A>T, XM_047420490.1:c.-527A>G, XM_047420491.1:c.-527A>T, XM_047420491.1:c.-527A>G, XM_047420493.1:c.-527A>T, XM_047420493.1:c.-527A>G, XM_047420494.1:c.-527A>T, XM_047420494.1:c.-527A>G, XM_047420487.1:c.119A>T, XM_047420487.1:c.119A>G, XM_047420488.1:c.119A>T, XM_047420488.1:c.119A>G, XM_047420489.1:c.119A>T, XM_047420489.1:c.119A>G, XR_007060056.1:n.147A>T, XR_007060056.1:n.147A>G, XM_047420495.1:c.119A>T, XM_047420495.1:c.119A>G, NP_059135.2:p.Glu40Val, NP_059135.2:p.Glu40Gly, XP_011514633.1:p.Glu40Val, XP_011514633.1:p.Glu40Gly, XP_011514634.1:p.Glu40Val, XP_011514634.1:p.Glu40Gly, XP_011514627.1:p.Glu40Val, XP_011514627.1:p.Glu40Gly, XP_011514629.1:p.Glu40Val, XP_011514629.1:p.Glu40Gly, XP_016867839.1:p.Glu40Val, XP_016867839.1:p.Glu40Gly, XP_016867840.1:p.Glu40Val, XP_016867840.1:p.Glu40Gly, NP_001337825.1:p.Glu40Val, NP_001337825.1:p.Glu40Gly, NP_001337826.1:p.Glu40Val, NP_001337826.1:p.Glu40Gly, NP_001337827.1:p.Glu40Val, NP_001337827.1:p.Glu40Gly, NP_001337828.1:p.Glu40Val, NP_001337828.1:p.Glu40Gly, XP_047276443.1:p.Glu40Val, XP_047276443.1:p.Glu40Gly, XP_047276444.1:p.Glu40Val, XP_047276444.1:p.Glu40Gly, XP_047276445.1:p.Glu40Val, XP_047276445.1:p.Glu40Gly, XP_047276451.1:p.Glu40Val, XP_047276451.1:p.Glu40Gly

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