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Items: 1 to 20 of 215

1.

rs1486911828 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    15:50300873 (GRCh38)
    15:50593070 (GRCh37)
    Canonical SPDI:
    NC_000015.10:50300872:C:T
    Gene:
    GABPB1 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_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_000015.10:g.50300873C>T, NC_000015.9:g.50593070C>T, NG_029475.2:g.59536G>A, NM_005254.6:c.649G>A, NM_005254.5:c.649G>A, NM_016654.5:c.613G>A, NM_016654.4:c.613G>A, NM_002041.5:c.649G>A, NM_002041.4:c.649G>A, NM_016655.5:c.613G>A, NM_016655.4:c.613G>A, NM_181427.4:c.613G>A, NM_181427.3:c.613G>A, NM_001320910.2:c.649G>A, NM_001320910.1:c.649G>A, NM_001320915.2:c.649G>A, NM_001320915.1:c.649G>A, XM_005254274.5:c.649G>A, XM_005254274.4:c.649G>A, XM_005254274.3:c.649G>A, XM_005254274.2:c.649G>A, XM_005254274.1:c.649G>A, XM_011521426.4:c.613G>A, XM_011521426.3:c.613G>A, XM_011521426.2:c.613G>A, XM_011521426.1:c.613G>A, XM_017022053.3:c.613G>A, XM_017022053.2:c.613G>A, XM_017022053.1:c.613G>A, XM_024449883.2:c.664G>A, XM_024449883.1:c.664G>A, XM_024449886.2:c.649G>A, XM_024449886.1:c.649G>A, XM_047432336.1:c.721G>A, XM_047432337.1:c.622G>A, NP_005245.2:p.Gly217Arg, NP_057738.1:p.Gly205Arg, NP_002032.2:p.Gly217Arg, NP_057739.1:p.Gly205Arg, NP_852092.1:p.Gly205Arg, NP_001307839.1:p.Gly217Arg, NP_001307844.1:p.Gly217Arg, XP_005254331.1:p.Gly217Arg, XP_011519728.1:p.Gly205Arg, XP_016877542.1:p.Gly205Arg, XP_024305651.1:p.Gly222Arg, XP_024305654.1:p.Gly217Arg, XP_047288292.1:p.Gly241Arg, XP_047288293.1:p.Gly208Arg

    2.

    rs1484999912 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      15:50286139 (GRCh38)
      15:50578336 (GRCh37)
      Canonical SPDI:
      NC_000015.10:50286138:T:C
      Gene:
      GABPB1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000015.10:g.50286139T>C, NC_000015.9:g.50578336T>C, NG_029475.2:g.74270A>G, NM_005254.6:c.964A>G, NM_005254.5:c.964A>G, NM_016654.5:c.928A>G, NM_016654.4:c.928A>G, NM_002041.5:c.964A>G, NM_002041.4:c.964A>G, NM_016655.5:c.928A>G, NM_016655.4:c.928A>G, NM_181427.4:c.928A>G, NM_181427.3:c.928A>G, NM_001320910.2:c.964A>G, NM_001320910.1:c.964A>G, NM_001320915.2:c.961A>G, NM_001320915.1:c.961A>G, XM_005254274.5:c.964A>G, XM_005254274.4:c.964A>G, XM_005254274.3:c.964A>G, XM_005254274.2:c.964A>G, XM_005254274.1:c.964A>G, XM_011521426.4:c.925A>G, XM_011521426.3:c.925A>G, XM_011521426.2:c.925A>G, XM_011521426.1:c.925A>G, XM_017022053.3:c.928A>G, XM_017022053.2:c.928A>G, XM_017022053.1:c.928A>G, XM_024449883.2:c.979A>G, XM_024449883.1:c.979A>G, XM_024449886.2:c.961A>G, XM_024449886.1:c.961A>G, XM_047432336.1:c.1036A>G, XM_047432337.1:c.937A>G, NP_005245.2:p.Ser322Gly, NP_057738.1:p.Ser310Gly, NP_002032.2:p.Ser322Gly, NP_057739.1:p.Ser310Gly, NP_852092.1:p.Ser310Gly, NP_001307839.1:p.Ser322Gly, NP_001307844.1:p.Ser321Gly, XP_005254331.1:p.Ser322Gly, XP_011519728.1:p.Ser309Gly, XP_016877542.1:p.Ser310Gly, XP_024305651.1:p.Ser327Gly, XP_024305654.1:p.Ser321Gly, XP_047288292.1:p.Ser346Gly, XP_047288293.1:p.Ser313Gly

      3.

      rs1474432157 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        15:50302934 (GRCh38)
        15:50595131 (GRCh37)
        Canonical SPDI:
        NC_000015.10:50302933:A:G
        Gene:
        GABPB1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000007/1 (GnomAD)
        G=0.000008/2 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000015.10:g.50302934A>G, NC_000015.9:g.50595131A>G, NG_029475.2:g.57475T>C, NM_005254.6:c.466T>C, NM_005254.5:c.466T>C, NM_016654.5:c.466T>C, NM_016654.4:c.466T>C, NM_002041.5:c.466T>C, NM_002041.4:c.466T>C, NM_016655.5:c.466T>C, NM_016655.4:c.466T>C, NM_181427.4:c.466T>C, NM_181427.3:c.466T>C, NM_001320910.2:c.466T>C, NM_001320910.1:c.466T>C, NM_001320915.2:c.466T>C, NM_001320915.1:c.466T>C, XM_005254274.5:c.466T>C, XM_005254274.4:c.466T>C, XM_005254274.3:c.466T>C, XM_005254274.2:c.466T>C, XM_005254274.1:c.466T>C, XM_011521426.4:c.466T>C, XM_011521426.3:c.466T>C, XM_011521426.2:c.466T>C, XM_011521426.1:c.466T>C, XM_017022053.3:c.466T>C, XM_017022053.2:c.466T>C, XM_017022053.1:c.466T>C, XM_024449883.2:c.481T>C, XM_024449883.1:c.481T>C, XM_024449886.2:c.466T>C, XM_024449886.1:c.466T>C, XM_047432336.1:c.538T>C, XM_047432337.1:c.475T>C

        4.

        rs1468684027 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          15:50304097 (GRCh38)
          15:50596294 (GRCh37)
          Canonical SPDI:
          NC_000015.10:50304096:C:T
          Gene:
          GABPB1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.50304097C>T, NC_000015.9:g.50596294C>T, NG_029475.2:g.56312G>A, NM_005254.6:c.145G>A, NM_005254.5:c.145G>A, NM_016654.5:c.145G>A, NM_016654.4:c.145G>A, NM_002041.5:c.145G>A, NM_002041.4:c.145G>A, NM_016655.5:c.145G>A, NM_016655.4:c.145G>A, NM_181427.4:c.145G>A, NM_181427.3:c.145G>A, NM_001320910.2:c.145G>A, NM_001320910.1:c.145G>A, NM_001320915.2:c.145G>A, NM_001320915.1:c.145G>A, XM_005254274.5:c.145G>A, XM_005254274.4:c.145G>A, XM_005254274.3:c.145G>A, XM_005254274.2:c.145G>A, XM_005254274.1:c.145G>A, XM_011521426.4:c.145G>A, XM_011521426.3:c.145G>A, XM_011521426.2:c.145G>A, XM_011521426.1:c.145G>A, XM_017022053.3:c.145G>A, XM_017022053.2:c.145G>A, XM_017022053.1:c.145G>A, XM_024449883.2:c.160G>A, XM_024449883.1:c.160G>A, XM_024449886.2:c.145G>A, XM_024449886.1:c.145G>A, XM_047432336.1:c.217G>A, XM_047432337.1:c.154G>A, NP_005245.2:p.Gly49Ser, NP_057738.1:p.Gly49Ser, NP_002032.2:p.Gly49Ser, NP_057739.1:p.Gly49Ser, NP_852092.1:p.Gly49Ser, NP_001307839.1:p.Gly49Ser, NP_001307844.1:p.Gly49Ser, XP_005254331.1:p.Gly49Ser, XP_011519728.1:p.Gly49Ser, XP_016877542.1:p.Gly49Ser, XP_024305651.1:p.Gly54Ser, XP_024305654.1:p.Gly49Ser, XP_047288292.1:p.Gly73Ser, XP_047288293.1:p.Gly52Ser

          5.

          rs1468235527 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            15:50301321 (GRCh38)
            15:50593518 (GRCh37)
            Canonical SPDI:
            NC_000015.10:50301320:A:C
            Gene:
            GABPB1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000015.10:g.50301321A>C, NC_000015.9:g.50593518A>C, NG_029475.2:g.59088T>G, NM_005254.6:c.519T>G, NM_005254.5:c.519T>G, NM_016654.5:c.519T>G, NM_016654.4:c.519T>G, NM_002041.5:c.519T>G, NM_002041.4:c.519T>G, NM_016655.5:c.519T>G, NM_016655.4:c.519T>G, NM_181427.4:c.519T>G, NM_181427.3:c.519T>G, NM_001320910.2:c.519T>G, NM_001320910.1:c.519T>G, NM_001320915.2:c.519T>G, NM_001320915.1:c.519T>G, XM_005254274.5:c.519T>G, XM_005254274.4:c.519T>G, XM_005254274.3:c.519T>G, XM_005254274.2:c.519T>G, XM_005254274.1:c.519T>G, XM_011521426.4:c.519T>G, XM_011521426.3:c.519T>G, XM_011521426.2:c.519T>G, XM_011521426.1:c.519T>G, XM_017022053.3:c.519T>G, XM_017022053.2:c.519T>G, XM_017022053.1:c.519T>G, XM_024449883.2:c.534T>G, XM_024449883.1:c.534T>G, XM_024449886.2:c.519T>G, XM_024449886.1:c.519T>G, XM_047432336.1:c.591T>G, XM_047432337.1:c.528T>G

            6.

            rs1461039251 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              15:50302951 (GRCh38)
              15:50595148 (GRCh37)
              Canonical SPDI:
              NC_000015.10:50302950:T:G
              Gene:
              GABPB1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000015.10:g.50302951T>G, NC_000015.9:g.50595148T>G, NG_029475.2:g.57458A>C, NM_005254.6:c.449A>C, NM_005254.5:c.449A>C, NM_016654.5:c.449A>C, NM_016654.4:c.449A>C, NM_002041.5:c.449A>C, NM_002041.4:c.449A>C, NM_016655.5:c.449A>C, NM_016655.4:c.449A>C, NM_181427.4:c.449A>C, NM_181427.3:c.449A>C, NM_001320910.2:c.449A>C, NM_001320910.1:c.449A>C, NM_001320915.2:c.449A>C, NM_001320915.1:c.449A>C, XM_005254274.5:c.449A>C, XM_005254274.4:c.449A>C, XM_005254274.3:c.449A>C, XM_005254274.2:c.449A>C, XM_005254274.1:c.449A>C, XM_011521426.4:c.449A>C, XM_011521426.3:c.449A>C, XM_011521426.2:c.449A>C, XM_011521426.1:c.449A>C, XM_017022053.3:c.449A>C, XM_017022053.2:c.449A>C, XM_017022053.1:c.449A>C, XM_024449883.2:c.464A>C, XM_024449883.1:c.464A>C, XM_024449886.2:c.449A>C, XM_024449886.1:c.449A>C, XM_047432336.1:c.521A>C, XM_047432337.1:c.458A>C, NP_005245.2:p.Glu150Ala, NP_057738.1:p.Glu150Ala, NP_002032.2:p.Glu150Ala, NP_057739.1:p.Glu150Ala, NP_852092.1:p.Glu150Ala, NP_001307839.1:p.Glu150Ala, NP_001307844.1:p.Glu150Ala, XP_005254331.1:p.Glu150Ala, XP_011519728.1:p.Glu150Ala, XP_016877542.1:p.Glu150Ala, XP_024305651.1:p.Glu155Ala, XP_024305654.1:p.Glu150Ala, XP_047288292.1:p.Glu174Ala, XP_047288293.1:p.Glu153Ala

              7.

              rs1457940712 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                15:50304107 (GRCh38)
                15:50596304 (GRCh37)
                Canonical SPDI:
                NC_000015.10:50304106:T:C
                Gene:
                GABPB1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000015.10:g.50304107T>C, NC_000015.9:g.50596304T>C, NG_029475.2:g.56302A>G, NM_005254.6:c.135A>G, NM_005254.5:c.135A>G, NM_016654.5:c.135A>G, NM_016654.4:c.135A>G, NM_002041.5:c.135A>G, NM_002041.4:c.135A>G, NM_016655.5:c.135A>G, NM_016655.4:c.135A>G, NM_181427.4:c.135A>G, NM_181427.3:c.135A>G, NM_001320910.2:c.135A>G, NM_001320910.1:c.135A>G, NM_001320915.2:c.135A>G, NM_001320915.1:c.135A>G, XM_005254274.5:c.135A>G, XM_005254274.4:c.135A>G, XM_005254274.3:c.135A>G, XM_005254274.2:c.135A>G, XM_005254274.1:c.135A>G, XM_011521426.4:c.135A>G, XM_011521426.3:c.135A>G, XM_011521426.2:c.135A>G, XM_011521426.1:c.135A>G, XM_017022053.3:c.135A>G, XM_017022053.2:c.135A>G, XM_017022053.1:c.135A>G, XM_024449883.2:c.150A>G, XM_024449883.1:c.150A>G, XM_024449886.2:c.135A>G, XM_024449886.1:c.135A>G, XM_047432336.1:c.207A>G, XM_047432337.1:c.144A>G

                8.

                rs1455126859 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  15:50303121 (GRCh38)
                  15:50595318 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:50303120:A:G
                  Gene:
                  GABPB1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.50303121A>G, NC_000015.9:g.50595318A>G, NG_029475.2:g.57288T>C, NM_005254.6:c.279T>C, NM_005254.5:c.279T>C, NM_016654.5:c.279T>C, NM_016654.4:c.279T>C, NM_002041.5:c.279T>C, NM_002041.4:c.279T>C, NM_016655.5:c.279T>C, NM_016655.4:c.279T>C, NM_181427.4:c.279T>C, NM_181427.3:c.279T>C, NM_001320910.2:c.279T>C, NM_001320910.1:c.279T>C, NM_001320915.2:c.279T>C, NM_001320915.1:c.279T>C, XM_005254274.5:c.279T>C, XM_005254274.4:c.279T>C, XM_005254274.3:c.279T>C, XM_005254274.2:c.279T>C, XM_005254274.1:c.279T>C, XM_011521426.4:c.279T>C, XM_011521426.3:c.279T>C, XM_011521426.2:c.279T>C, XM_011521426.1:c.279T>C, XM_017022053.3:c.279T>C, XM_017022053.2:c.279T>C, XM_017022053.1:c.279T>C, XM_024449883.2:c.294T>C, XM_024449883.1:c.294T>C, XM_024449886.2:c.279T>C, XM_024449886.1:c.279T>C, XM_047432336.1:c.351T>C, XM_047432337.1:c.288T>C

                  9.

                  rs1454648356 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    15:50301320 (GRCh38)
                    15:50593517 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:50301319:C:T
                    Gene:
                    GABPB1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000015.10:g.50301320C>T, NC_000015.9:g.50593517C>T, NG_029475.2:g.59089G>A, NM_005254.6:c.520G>A, NM_005254.5:c.520G>A, NM_016654.5:c.520G>A, NM_016654.4:c.520G>A, NM_002041.5:c.520G>A, NM_002041.4:c.520G>A, NM_016655.5:c.520G>A, NM_016655.4:c.520G>A, NM_181427.4:c.520G>A, NM_181427.3:c.520G>A, NM_001320910.2:c.520G>A, NM_001320910.1:c.520G>A, NM_001320915.2:c.520G>A, NM_001320915.1:c.520G>A, XM_005254274.5:c.520G>A, XM_005254274.4:c.520G>A, XM_005254274.3:c.520G>A, XM_005254274.2:c.520G>A, XM_005254274.1:c.520G>A, XM_011521426.4:c.520G>A, XM_011521426.3:c.520G>A, XM_011521426.2:c.520G>A, XM_011521426.1:c.520G>A, XM_017022053.3:c.520G>A, XM_017022053.2:c.520G>A, XM_017022053.1:c.520G>A, XM_024449883.2:c.535G>A, XM_024449883.1:c.535G>A, XM_024449886.2:c.520G>A, XM_024449886.1:c.520G>A, XM_047432336.1:c.592G>A, XM_047432337.1:c.529G>A, NP_005245.2:p.Val174Met, NP_057738.1:p.Val174Met, NP_002032.2:p.Val174Met, NP_057739.1:p.Val174Met, NP_852092.1:p.Val174Met, NP_001307839.1:p.Val174Met, NP_001307844.1:p.Val174Met, XP_005254331.1:p.Val174Met, XP_011519728.1:p.Val174Met, XP_016877542.1:p.Val174Met, XP_024305651.1:p.Val179Met, XP_024305654.1:p.Val174Met, XP_047288292.1:p.Val198Met, XP_047288293.1:p.Val177Met

                    10.

                    rs1453860104 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      15:50301336 (GRCh38)
                      15:50593533 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:50301335:T:A
                      Gene:
                      GABPB1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000015.10:g.50301336T>A, NC_000015.9:g.50593533T>A, NG_029475.2:g.59073A>T, NM_005254.6:c.504A>T, NM_005254.5:c.504A>T, NM_016654.5:c.504A>T, NM_016654.4:c.504A>T, NM_002041.5:c.504A>T, NM_002041.4:c.504A>T, NM_016655.5:c.504A>T, NM_016655.4:c.504A>T, NM_181427.4:c.504A>T, NM_181427.3:c.504A>T, NM_001320910.2:c.504A>T, NM_001320910.1:c.504A>T, NM_001320915.2:c.504A>T, NM_001320915.1:c.504A>T, XM_005254274.5:c.504A>T, XM_005254274.4:c.504A>T, XM_005254274.3:c.504A>T, XM_005254274.2:c.504A>T, XM_005254274.1:c.504A>T, XM_011521426.4:c.504A>T, XM_011521426.3:c.504A>T, XM_011521426.2:c.504A>T, XM_011521426.1:c.504A>T, XM_017022053.3:c.504A>T, XM_017022053.2:c.504A>T, XM_017022053.1:c.504A>T, XM_024449883.2:c.519A>T, XM_024449883.1:c.519A>T, XM_024449886.2:c.504A>T, XM_024449886.1:c.504A>T, XM_047432336.1:c.576A>T, XM_047432337.1:c.513A>T

                      11.

                      rs1449052748 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        15:50289645 (GRCh38)
                        15:50581842 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:50289644:T:C
                        Gene:
                        GABPB1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000011/3 (TOPMED)
                        C=0.000012/3 (GnomAD_exomes)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        NC_000015.10:g.50289645T>C, NC_000015.9:g.50581842T>C, NG_029475.2:g.70764A>G, NM_005254.6:c.757A>G, NM_005254.5:c.757A>G, NM_016654.5:c.721A>G, NM_016654.4:c.721A>G, NM_002041.5:c.757A>G, NM_002041.4:c.757A>G, NM_016655.5:c.721A>G, NM_016655.4:c.721A>G, NM_181427.4:c.721A>G, NM_181427.3:c.721A>G, NM_001320910.2:c.757A>G, NM_001320910.1:c.757A>G, NM_001320915.2:c.754A>G, NM_001320915.1:c.754A>G, XM_005254274.5:c.757A>G, XM_005254274.4:c.757A>G, XM_005254274.3:c.757A>G, XM_005254274.2:c.757A>G, XM_005254274.1:c.757A>G, XM_011521426.4:c.718A>G, XM_011521426.3:c.718A>G, XM_011521426.2:c.718A>G, XM_011521426.1:c.718A>G, XM_017022053.3:c.721A>G, XM_017022053.2:c.721A>G, XM_017022053.1:c.721A>G, XM_024449883.2:c.772A>G, XM_024449883.1:c.772A>G, XM_024449886.2:c.754A>G, XM_024449886.1:c.754A>G, XM_047432336.1:c.829A>G, XM_047432337.1:c.730A>G, NP_005245.2:p.Thr253Ala, NP_057738.1:p.Thr241Ala, NP_002032.2:p.Thr253Ala, NP_057739.1:p.Thr241Ala, NP_852092.1:p.Thr241Ala, NP_001307839.1:p.Thr253Ala, NP_001307844.1:p.Thr252Ala, XP_005254331.1:p.Thr253Ala, XP_011519728.1:p.Thr240Ala, XP_016877542.1:p.Thr241Ala, XP_024305651.1:p.Thr258Ala, XP_024305654.1:p.Thr252Ala, XP_047288292.1:p.Thr277Ala, XP_047288293.1:p.Thr244Ala

                        12.

                        rs1447353723 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          15:50300894 (GRCh38)
                          15:50593091 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:50300893:C:T
                          Gene:
                          GABPB1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000015.10:g.50300894C>T, NC_000015.9:g.50593091C>T, NG_029475.2:g.59515G>A, NM_005254.6:c.628G>A, NM_005254.5:c.628G>A, NM_016654.5:c.592G>A, NM_016654.4:c.592G>A, NM_002041.5:c.628G>A, NM_002041.4:c.628G>A, NM_016655.5:c.592G>A, NM_016655.4:c.592G>A, NM_181427.4:c.592G>A, NM_181427.3:c.592G>A, NM_001320910.2:c.628G>A, NM_001320910.1:c.628G>A, NM_001320915.2:c.628G>A, NM_001320915.1:c.628G>A, XM_005254274.5:c.628G>A, XM_005254274.4:c.628G>A, XM_005254274.3:c.628G>A, XM_005254274.2:c.628G>A, XM_005254274.1:c.628G>A, XM_011521426.4:c.592G>A, XM_011521426.3:c.592G>A, XM_011521426.2:c.592G>A, XM_011521426.1:c.592G>A, XM_017022053.3:c.592G>A, XM_017022053.2:c.592G>A, XM_017022053.1:c.592G>A, XM_024449883.2:c.643G>A, XM_024449883.1:c.643G>A, XM_024449886.2:c.628G>A, XM_024449886.1:c.628G>A, XM_047432336.1:c.700G>A, XM_047432337.1:c.601G>A, NP_005245.2:p.Gly210Ser, NP_057738.1:p.Gly198Ser, NP_002032.2:p.Gly210Ser, NP_057739.1:p.Gly198Ser, NP_852092.1:p.Gly198Ser, NP_001307839.1:p.Gly210Ser, NP_001307844.1:p.Gly210Ser, XP_005254331.1:p.Gly210Ser, XP_011519728.1:p.Gly198Ser, XP_016877542.1:p.Gly198Ser, XP_024305651.1:p.Gly215Ser, XP_024305654.1:p.Gly210Ser, XP_047288292.1:p.Gly234Ser, XP_047288293.1:p.Gly201Ser

                          13.

                          rs1447285739 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:50278735 (GRCh38)
                            15:50570932 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:50278734:T:C
                            Gene:
                            GABPB1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000021/3 (GnomAD)
                            HGVS:
                            NC_000015.10:g.50278735T>C, NC_000015.9:g.50570932T>C, NG_029475.2:g.81674A>G, NM_005254.6:c.1085A>G, NM_005254.5:c.1085A>G, NM_016654.5:c.1049A>G, NM_016654.4:c.1049A>G, NM_001320910.2:c.1085A>G, NM_001320910.1:c.1085A>G, NM_001320915.2:c.1082A>G, NM_001320915.1:c.1082A>G, XM_005254274.5:c.1085A>G, XM_005254274.4:c.1085A>G, XM_005254274.3:c.1085A>G, XM_005254274.2:c.1085A>G, XM_005254274.1:c.1085A>G, XM_011521426.4:c.1046A>G, XM_011521426.3:c.1046A>G, XM_011521426.2:c.1046A>G, XM_011521426.1:c.1046A>G, XM_017022053.3:c.1049A>G, XM_017022053.2:c.1049A>G, XM_017022053.1:c.1049A>G, XM_024449883.2:c.1100A>G, XM_024449883.1:c.1100A>G, XM_024449886.2:c.1082A>G, XM_024449886.1:c.1082A>G, XM_047432336.1:c.1157A>G, XM_047432337.1:c.1058A>G, NP_005245.2:p.Gln362Arg, NP_057738.1:p.Gln350Arg, NP_001307839.1:p.Gln362Arg, NP_001307844.1:p.Gln361Arg, XP_005254331.1:p.Gln362Arg, XP_011519728.1:p.Gln349Arg, XP_016877542.1:p.Gln350Arg, XP_024305651.1:p.Gln367Arg, XP_024305654.1:p.Gln361Arg, XP_047288292.1:p.Gln386Arg, XP_047288293.1:p.Gln353Arg

                            14.

                            rs1441855143 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              15:50289502 (GRCh38)
                              15:50581699 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:50289501:G:A
                              Gene:
                              GABPB1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000015.10:g.50289502G>A, NC_000015.9:g.50581699G>A, NG_029475.2:g.70907C>T, NM_005254.6:c.900C>T, NM_005254.5:c.900C>T, NM_016654.5:c.864C>T, NM_016654.4:c.864C>T, NM_002041.5:c.900C>T, NM_002041.4:c.900C>T, NM_016655.5:c.864C>T, NM_016655.4:c.864C>T, NM_181427.4:c.864C>T, NM_181427.3:c.864C>T, NM_001320910.2:c.900C>T, NM_001320910.1:c.900C>T, NM_001320915.2:c.897C>T, NM_001320915.1:c.897C>T, XM_005254274.5:c.900C>T, XM_005254274.4:c.900C>T, XM_005254274.3:c.900C>T, XM_005254274.2:c.900C>T, XM_005254274.1:c.900C>T, XM_011521426.4:c.861C>T, XM_011521426.3:c.861C>T, XM_011521426.2:c.861C>T, XM_011521426.1:c.861C>T, XM_017022053.3:c.864C>T, XM_017022053.2:c.864C>T, XM_017022053.1:c.864C>T, XM_024449883.2:c.915C>T, XM_024449883.1:c.915C>T, XM_024449886.2:c.897C>T, XM_024449886.1:c.897C>T, XM_047432336.1:c.972C>T, XM_047432337.1:c.873C>T

                              15.

                              rs1435059788 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                15:50309729 (GRCh38)
                                15:50601926 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:50309728:T:C
                                Gene:
                                GABPB1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000015.10:g.50309729T>C, NC_000015.9:g.50601926T>C, NG_029475.2:g.50680A>G, NM_005254.6:c.70A>G, NM_005254.5:c.70A>G, NM_016654.5:c.70A>G, NM_016654.4:c.70A>G, NM_002041.5:c.70A>G, NM_002041.4:c.70A>G, NM_016655.5:c.70A>G, NM_016655.4:c.70A>G, NM_181427.4:c.70A>G, NM_181427.3:c.70A>G, NM_001320910.2:c.70A>G, NM_001320910.1:c.70A>G, NM_001320915.2:c.70A>G, NM_001320915.1:c.70A>G, XM_005254274.5:c.70A>G, XM_005254274.4:c.70A>G, XM_005254274.3:c.70A>G, XM_005254274.2:c.70A>G, XM_005254274.1:c.70A>G, XM_011521426.4:c.70A>G, XM_011521426.3:c.70A>G, XM_011521426.2:c.70A>G, XM_011521426.1:c.70A>G, XM_017022053.3:c.70A>G, XM_017022053.2:c.70A>G, XM_017022053.1:c.70A>G, XM_024449883.2:c.85A>G, XM_024449883.1:c.85A>G, XM_024449886.2:c.70A>G, XM_024449886.1:c.70A>G, XM_047432336.1:c.142A>G, XM_047432337.1:c.79A>G, NP_005245.2:p.Ile24Val, NP_057738.1:p.Ile24Val, NP_002032.2:p.Ile24Val, NP_057739.1:p.Ile24Val, NP_852092.1:p.Ile24Val, NP_001307839.1:p.Ile24Val, NP_001307844.1:p.Ile24Val, XP_005254331.1:p.Ile24Val, XP_011519728.1:p.Ile24Val, XP_016877542.1:p.Ile24Val, XP_024305651.1:p.Ile29Val, XP_024305654.1:p.Ile24Val, XP_047288292.1:p.Ile48Val, XP_047288293.1:p.Ile27Val

                                16.

                                rs1434816342 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  15:50303073 (GRCh38)
                                  15:50595270 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:50303072:A:G
                                  Gene:
                                  GABPB1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000015.10:g.50303073A>G, NC_000015.9:g.50595270A>G, NG_029475.2:g.57336T>C, NM_005254.6:c.327T>C, NM_005254.5:c.327T>C, NM_016654.5:c.327T>C, NM_016654.4:c.327T>C, NM_002041.5:c.327T>C, NM_002041.4:c.327T>C, NM_016655.5:c.327T>C, NM_016655.4:c.327T>C, NM_181427.4:c.327T>C, NM_181427.3:c.327T>C, NM_001320910.2:c.327T>C, NM_001320910.1:c.327T>C, NM_001320915.2:c.327T>C, NM_001320915.1:c.327T>C, XM_005254274.5:c.327T>C, XM_005254274.4:c.327T>C, XM_005254274.3:c.327T>C, XM_005254274.2:c.327T>C, XM_005254274.1:c.327T>C, XM_011521426.4:c.327T>C, XM_011521426.3:c.327T>C, XM_011521426.2:c.327T>C, XM_011521426.1:c.327T>C, XM_017022053.3:c.327T>C, XM_017022053.2:c.327T>C, XM_017022053.1:c.327T>C, XM_024449883.2:c.342T>C, XM_024449883.1:c.342T>C, XM_024449886.2:c.327T>C, XM_024449886.1:c.327T>C, XM_047432336.1:c.399T>C, XM_047432337.1:c.336T>C

                                  17.

                                  rs1426429509 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:50278686 (GRCh38)
                                    15:50570883 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:50278685:G:A
                                    Gene:
                                    GABPB1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.00004/1 (TOMMO)
                                    HGVS:

                                    18.

                                    rs1421120332 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      15:50300829 (GRCh38)
                                      15:50593026 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:50300828:A:C
                                      Gene:
                                      GABPB1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.50300829A>C, NC_000015.9:g.50593026A>C, NG_029475.2:g.59580T>G, NM_005254.6:c.693T>G, NM_005254.5:c.693T>G, NM_016654.5:c.657T>G, NM_016654.4:c.657T>G, NM_002041.5:c.693T>G, NM_002041.4:c.693T>G, NM_016655.5:c.657T>G, NM_016655.4:c.657T>G, NM_181427.4:c.657T>G, NM_181427.3:c.657T>G, NM_001320910.2:c.693T>G, NM_001320910.1:c.693T>G, NM_001320915.2:c.693T>G, NM_001320915.1:c.693T>G, XM_005254274.5:c.693T>G, XM_005254274.4:c.693T>G, XM_005254274.3:c.693T>G, XM_005254274.2:c.693T>G, XM_005254274.1:c.693T>G, XM_011521426.4:c.657T>G, XM_011521426.3:c.657T>G, XM_011521426.2:c.657T>G, XM_011521426.1:c.657T>G, XM_017022053.3:c.657T>G, XM_017022053.2:c.657T>G, XM_017022053.1:c.657T>G, XM_024449883.2:c.708T>G, XM_024449883.1:c.708T>G, XM_024449886.2:c.693T>G, XM_024449886.1:c.693T>G, XM_047432336.1:c.765T>G, XM_047432337.1:c.666T>G

                                      19.

                                      rs1414647649 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        15:50300819 (GRCh38)
                                        15:50593016 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:50300818:C:G
                                        Gene:
                                        GABPB1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0./0 (GnomAD)
                                        G=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000015.10:g.50300819C>G, NC_000015.9:g.50593016C>G, NG_029475.2:g.59590G>C, NM_005254.6:c.703G>C, NM_005254.5:c.703G>C, NM_016654.5:c.667G>C, NM_016654.4:c.667G>C, NM_002041.5:c.703G>C, NM_002041.4:c.703G>C, NM_016655.5:c.667G>C, NM_016655.4:c.667G>C, NM_181427.4:c.667G>C, NM_181427.3:c.667G>C, NM_001320910.2:c.703G>C, NM_001320910.1:c.703G>C, NM_001320915.2:c.703G>C, NM_001320915.1:c.703G>C, XM_005254274.5:c.703G>C, XM_005254274.4:c.703G>C, XM_005254274.3:c.703G>C, XM_005254274.2:c.703G>C, XM_005254274.1:c.703G>C, XM_011521426.4:c.667G>C, XM_011521426.3:c.667G>C, XM_011521426.2:c.667G>C, XM_011521426.1:c.667G>C, XM_017022053.3:c.667G>C, XM_017022053.2:c.667G>C, XM_017022053.1:c.667G>C, XM_024449883.2:c.718G>C, XM_024449883.1:c.718G>C, XM_024449886.2:c.703G>C, XM_024449886.1:c.703G>C, XM_047432336.1:c.775G>C, XM_047432337.1:c.676G>C, NP_005245.2:p.Ala235Pro, NP_057738.1:p.Ala223Pro, NP_002032.2:p.Ala235Pro, NP_057739.1:p.Ala223Pro, NP_852092.1:p.Ala223Pro, NP_001307839.1:p.Ala235Pro, NP_001307844.1:p.Ala235Pro, XP_005254331.1:p.Ala235Pro, XP_011519728.1:p.Ala223Pro, XP_016877542.1:p.Ala223Pro, XP_024305651.1:p.Ala240Pro, XP_024305654.1:p.Ala235Pro, XP_047288292.1:p.Ala259Pro, XP_047288293.1:p.Ala226Pro

                                        20.

                                        rs1407237992 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          15:50304133 (GRCh38)
                                          15:50596330 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:50304132:G:C
                                          Gene:
                                          GABPB1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000015.10:g.50304133G>C, NC_000015.9:g.50596330G>C, NG_029475.2:g.56276C>G, NM_005254.6:c.109C>G, NM_005254.5:c.109C>G, NM_016654.5:c.109C>G, NM_016654.4:c.109C>G, NM_002041.5:c.109C>G, NM_002041.4:c.109C>G, NM_016655.5:c.109C>G, NM_016655.4:c.109C>G, NM_181427.4:c.109C>G, NM_181427.3:c.109C>G, NM_001320910.2:c.109C>G, NM_001320910.1:c.109C>G, NM_001320915.2:c.109C>G, NM_001320915.1:c.109C>G, XM_005254274.5:c.109C>G, XM_005254274.4:c.109C>G, XM_005254274.3:c.109C>G, XM_005254274.2:c.109C>G, XM_005254274.1:c.109C>G, XM_011521426.4:c.109C>G, XM_011521426.3:c.109C>G, XM_011521426.2:c.109C>G, XM_011521426.1:c.109C>G, XM_017022053.3:c.109C>G, XM_017022053.2:c.109C>G, XM_017022053.1:c.109C>G, XM_024449883.2:c.124C>G, XM_024449883.1:c.124C>G, XM_024449886.2:c.109C>G, XM_024449886.1:c.109C>G, XM_047432336.1:c.181C>G, XM_047432337.1:c.118C>G, NP_005245.2:p.Leu37Val, NP_057738.1:p.Leu37Val, NP_002032.2:p.Leu37Val, NP_057739.1:p.Leu37Val, NP_852092.1:p.Leu37Val, NP_001307839.1:p.Leu37Val, NP_001307844.1:p.Leu37Val, XP_005254331.1:p.Leu37Val, XP_011519728.1:p.Leu37Val, XP_016877542.1:p.Leu37Val, XP_024305651.1:p.Leu42Val, XP_024305654.1:p.Leu37Val, XP_047288292.1:p.Leu61Val, XP_047288293.1:p.Leu40Val

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