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Items: 1 to 20 of 710

1.

rs1489602307 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    12:51453673 (GRCh38)
    12:51847457 (GRCh37)
    Canonical SPDI:
    NC_000012.12:51453672:A:C,NC_000012.12:51453672:A:G
    Gene:
    SLC4A8 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000046/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000012.12:g.51453673A>C, NC_000012.12:g.51453673A>G, NC_000012.11:g.51847457A>C, NC_000012.11:g.51847457A>G, NG_032675.2:g.67227A>C, NG_032675.2:g.67227A>G, NM_001039960.3:c.548A>C, NM_001039960.3:c.548A>G, NM_001039960.2:c.548A>C, NM_001039960.2:c.548A>G, NM_001258401.3:c.389A>C, NM_001258401.3:c.389A>G, NM_001258401.2:c.389A>C, NM_001258401.2:c.389A>G, NM_001258403.2:c.389A>C, NM_001258403.2:c.389A>G, NM_001258403.1:c.389A>C, NM_001258403.1:c.389A>G, NM_001258402.2:c.548A>C, NM_001258402.2:c.548A>G, NM_001258402.1:c.548A>C, NM_001258402.1:c.548A>G, NM_001267615.2:c.389A>C, NM_001267615.2:c.389A>G, NM_001267615.1:c.389A>C, NM_001267615.1:c.389A>G, NM_001405270.1:c.512A>C, NM_001405270.1:c.512A>G, NM_001405268.1:c.548A>C, NM_001405268.1:c.548A>G, NM_001405266.1:c.389A>C, NM_001405266.1:c.389A>G, XM_011539010.2:c.548A>C, XM_011539010.2:c.548A>G, XM_011539010.1:c.548A>C, XM_011539010.1:c.548A>G, XM_011539011.2:c.389A>C, XM_011539011.2:c.389A>G, XM_011539011.1:c.389A>C, XM_011539011.1:c.389A>G, NM_004858.2:c.548A>C, NM_004858.2:c.548A>G, XM_006719700.2:c.548A>C, XM_006719700.2:c.548A>G, XM_006719700.1:c.548A>C, XM_006719700.1:c.548A>G, XM_047429910.1:c.512A>C, XM_047429910.1:c.512A>G, NM_004858.1:c.548A>C, NM_004858.1:c.548A>G, XM_047429911.1:c.548A>C, XM_047429911.1:c.548A>G, XM_047429912.1:c.389A>C, XM_047429912.1:c.389A>G, NP_001035049.1:p.His183Pro, NP_001035049.1:p.His183Arg, NP_001245330.1:p.His130Pro, NP_001245330.1:p.His130Arg, NP_001245332.1:p.His130Pro, NP_001245332.1:p.His130Arg, NP_001245331.1:p.His183Pro, NP_001245331.1:p.His183Arg, NP_001254544.1:p.His130Pro, NP_001254544.1:p.His130Arg, XP_011537312.1:p.His183Pro, XP_011537312.1:p.His183Arg, XP_011537313.1:p.His130Pro, XP_011537313.1:p.His130Arg, XP_006719763.1:p.His183Pro, XP_006719763.1:p.His183Arg, XP_047285866.1:p.His171Pro, XP_047285866.1:p.His171Arg, XP_047285867.1:p.His183Pro, XP_047285867.1:p.His183Arg, XP_047285868.1:p.His130Pro, XP_047285868.1:p.His130Arg

    2.

    rs1488449316 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:51459964 (GRCh38)
      12:51853748 (GRCh37)
      Canonical SPDI:
      NC_000012.12:51459963:T:C
      Gene:
      SLC4A8 (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.51459964T>C, NC_000012.11:g.51853748T>C, NG_032675.2:g.73518T>C, NM_001039960.3:c.869T>C, NM_001039960.2:c.869T>C, NM_001258401.3:c.710T>C, NM_001258401.2:c.710T>C, NM_001258403.2:c.710T>C, NM_001258403.1:c.710T>C, NM_001258402.2:c.869T>C, NM_001258402.1:c.869T>C, NM_001267615.2:c.710T>C, NM_001267615.1:c.710T>C, NM_001405270.1:c.833T>C, NM_001405268.1:c.869T>C, NM_001405266.1:c.710T>C, XM_011539010.2:c.869T>C, XM_011539010.1:c.869T>C, XM_011539011.2:c.710T>C, XM_011539011.1:c.710T>C, NM_004858.2:c.869T>C, XM_006719700.2:c.869T>C, XM_006719700.1:c.869T>C, XM_047429910.1:c.833T>C, NM_004858.1:c.869T>C, XM_047429911.1:c.869T>C, XM_047429912.1:c.710T>C, NP_001035049.1:p.Phe290Ser, NP_001245330.1:p.Phe237Ser, NP_001245332.1:p.Phe237Ser, NP_001245331.1:p.Phe290Ser, NP_001254544.1:p.Phe237Ser, XP_011537312.1:p.Phe290Ser, XP_011537313.1:p.Phe237Ser, XP_006719763.1:p.Phe290Ser, XP_047285866.1:p.Phe278Ser, XP_047285867.1:p.Phe290Ser, XP_047285868.1:p.Phe237Ser

      3.

      rs1487388109 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:51463648 (GRCh38)
        12:51857432 (GRCh37)
        Canonical SPDI:
        NC_000012.12:51463647:A:G
        Gene:
        SLC4A8 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.51463648A>G, NC_000012.11:g.51857432A>G, NG_032675.2:g.77202A>G, NM_001039960.3:c.1283A>G, NM_001039960.2:c.1283A>G, NM_001258401.3:c.1124A>G, NM_001258401.2:c.1124A>G, NM_001258403.2:c.1124A>G, NM_001258403.1:c.1124A>G, NM_001258402.2:c.1283A>G, NM_001258402.1:c.1283A>G, NM_001267615.2:c.1124A>G, NM_001267615.1:c.1124A>G, NM_001405270.1:c.1247A>G, NM_001405268.1:c.1283A>G, NM_001405266.1:c.1124A>G, XM_011539010.2:c.1283A>G, XM_011539010.1:c.1283A>G, XM_011539011.2:c.1124A>G, XM_011539011.1:c.1124A>G, NM_004858.2:c.1283A>G, XM_006719700.2:c.1283A>G, XM_006719700.1:c.1283A>G, XM_047429910.1:c.1247A>G, NM_004858.1:c.1283A>G, XM_047429911.1:c.1283A>G, XM_047429912.1:c.1124A>G, NP_001035049.1:p.Asn428Ser, NP_001245330.1:p.Asn375Ser, NP_001245332.1:p.Asn375Ser, NP_001245331.1:p.Asn428Ser, NP_001254544.1:p.Asn375Ser, XP_011537312.1:p.Asn428Ser, XP_011537313.1:p.Asn375Ser, XP_006719763.1:p.Asn428Ser, XP_047285866.1:p.Asn416Ser, XP_047285867.1:p.Asn428Ser, XP_047285868.1:p.Asn375Ser

        4.

        rs1486067181 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:51497030 (GRCh38)
          12:51890814 (GRCh37)
          Canonical SPDI:
          NC_000012.12:51497029:T:C
          Gene:
          SLC4A8 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1485507929 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:51488752 (GRCh38)
            12:51882536 (GRCh37)
            Canonical SPDI:
            NC_000012.12:51488751:G:A
            Gene:
            SLC4A8 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:

            6.

            rs1485423725 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              12:51471368 (GRCh38)
              12:51865152 (GRCh37)
              Canonical SPDI:
              NC_000012.12:51471367:T:C
              Gene:
              SLC4A8 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:

              7.

              rs1483631337 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->TATG [Show Flanks]
                Chromosome:
                12:51471290 (GRCh38)
                12:51865075 (GRCh37)
                Canonical SPDI:
                NC_000012.12:51471290:TATG:TATGTATG
                Gene:
                SLC4A8 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATGTATG=0./0 (ALFA)
                TATG=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.51471291_51471294dup, NC_000012.11:g.51865075_51865078dup, NG_032675.2:g.84845_84848dup, NM_001039960.3:c.1663_1666dup, NM_001039960.2:c.1663_1666dup, NM_001258401.3:c.1504_1507dup, NM_001258401.2:c.1504_1507dup, NM_001258403.2:c.1504_1507dup, NM_001258403.1:c.1504_1507dup, NM_001258402.2:c.1663_1666dup, NM_001258402.1:c.1663_1666dup, NM_001267615.2:c.1504_1507dup, NM_001267615.1:c.1504_1507dup, NM_001405270.1:c.1627_1630dup, NM_001405268.1:c.1663_1666dup, NM_001405266.1:c.1504_1507dup, XM_011539014.4:c.196_199dup, XM_011539014.3:c.196_199dup, XM_011539014.2:c.196_199dup, XM_011539014.1:c.196_199dup, XM_011539010.2:c.1663_1666dup, XM_011539010.1:c.1663_1666dup, XM_011539011.2:c.1504_1507dup, XM_011539011.1:c.1504_1507dup, NM_004858.2:c.1663_1666dup, XM_006719700.2:c.1663_1666dup, XM_006719700.1:c.1663_1666dup, XM_047429910.1:c.1627_1630dup, NM_004858.1:c.1663_1666dup, XM_047429911.1:c.1663_1666dup, XM_047429912.1:c.1504_1507dup, NP_001035049.1:p.Ala556fs, NP_001245330.1:p.Ala503fs, NP_001245332.1:p.Ala503fs, NP_001245331.1:p.Ala556fs, NP_001254544.1:p.Ala503fs, XP_011537316.1:p.Ala67fs, XP_011537312.1:p.Ala556fs, XP_011537313.1:p.Ala503fs, XP_006719763.1:p.Ala556fs, XP_047285866.1:p.Ala544fs, XP_047285867.1:p.Ala556fs, XP_047285868.1:p.Ala503fs

                8.

                rs1479267636 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:51453539 (GRCh38)
                  12:51847323 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:51453538:G:A
                  Gene:
                  SLC4A8 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000008/2 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1477404928 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    12:51469716 (GRCh38)
                    12:51863500 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:51469715:C:T
                    Gene:
                    SLC4A8 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:

                    10.

                    rs1475009542 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      12:51471295 (GRCh38)
                      12:51865079 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:51471294:C:G
                      Gene:
                      SLC4A8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_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=0.000342/1 (KOREAN)
                      HGVS:
                      NC_000012.12:g.51471295C>G, NC_000012.11:g.51865079C>G, NG_032675.2:g.84849C>G, NM_001039960.3:c.1667C>G, NM_001039960.2:c.1667C>G, NM_001258401.3:c.1508C>G, NM_001258401.2:c.1508C>G, NM_001258403.2:c.1508C>G, NM_001258403.1:c.1508C>G, NM_001258402.2:c.1667C>G, NM_001258402.1:c.1667C>G, NM_001267615.2:c.1508C>G, NM_001267615.1:c.1508C>G, NM_001405270.1:c.1631C>G, NM_001405268.1:c.1667C>G, NM_001405266.1:c.1508C>G, XM_011539014.4:c.200C>G, XM_011539014.3:c.200C>G, XM_011539014.2:c.200C>G, XM_011539014.1:c.200C>G, XM_011539010.2:c.1667C>G, XM_011539010.1:c.1667C>G, XM_011539011.2:c.1508C>G, XM_011539011.1:c.1508C>G, NM_004858.2:c.1667C>G, XM_006719700.2:c.1667C>G, XM_006719700.1:c.1667C>G, XM_047429910.1:c.1631C>G, NM_004858.1:c.1667C>G, XM_047429911.1:c.1667C>G, XM_047429912.1:c.1508C>G, NP_001035049.1:p.Ala556Gly, NP_001245330.1:p.Ala503Gly, NP_001245332.1:p.Ala503Gly, NP_001245331.1:p.Ala556Gly, NP_001254544.1:p.Ala503Gly, XP_011537316.1:p.Ala67Gly, XP_011537312.1:p.Ala556Gly, XP_011537313.1:p.Ala503Gly, XP_006719763.1:p.Ala556Gly, XP_047285866.1:p.Ala544Gly, XP_047285867.1:p.Ala556Gly, XP_047285868.1:p.Ala503Gly

                      11.

                      rs1473969607 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        12:51488768 (GRCh38)
                        12:51882552 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:51488767:G:A,NC_000012.12:51488767:G:T
                        Gene:
                        SLC4A8 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000012.12:g.51488768G>A, NC_000012.12:g.51488768G>T, NC_000012.11:g.51882552G>A, NC_000012.11:g.51882552G>T, NG_032675.2:g.102322G>A, NG_032675.2:g.102322G>T, NM_001039960.3:c.2356G>A, NM_001039960.3:c.2356G>T, NM_001039960.2:c.2356G>A, NM_001039960.2:c.2356G>T, NM_001258401.3:c.2197G>A, NM_001258401.3:c.2197G>T, NM_001258401.2:c.2197G>A, NM_001258401.2:c.2197G>T, NM_001405270.1:c.2320G>A, NM_001405270.1:c.2320G>T, XM_011539014.4:c.889G>A, XM_011539014.4:c.889G>T, XM_011539014.3:c.889G>A, XM_011539014.3:c.889G>T, XM_011539014.2:c.889G>A, XM_011539014.2:c.889G>T, XM_011539014.1:c.889G>A, XM_011539014.1:c.889G>T, XM_011539010.2:c.2356G>A, XM_011539010.2:c.2356G>T, XM_011539010.1:c.2356G>A, XM_011539010.1:c.2356G>T, XM_011539011.2:c.2197G>A, XM_011539011.2:c.2197G>T, XM_011539011.1:c.2197G>A, XM_011539011.1:c.2197G>T, NM_004858.2:c.2356G>A, NM_004858.2:c.2356G>T, XM_047429910.1:c.2320G>A, XM_047429910.1:c.2320G>T, NM_004858.1:c.2356G>A, NM_004858.1:c.2356G>T, XM_047429911.1:c.2356G>A, XM_047429911.1:c.2356G>T, NP_001035049.1:p.Ala786Thr, NP_001035049.1:p.Ala786Ser, NP_001245330.1:p.Ala733Thr, NP_001245330.1:p.Ala733Ser, XP_011537316.1:p.Ala297Thr, XP_011537316.1:p.Ala297Ser, XP_011537312.1:p.Ala786Thr, XP_011537312.1:p.Ala786Ser, XP_011537313.1:p.Ala733Thr, XP_011537313.1:p.Ala733Ser, XP_047285866.1:p.Ala774Thr, XP_047285866.1:p.Ala774Ser, XP_047285867.1:p.Ala786Thr, XP_047285867.1:p.Ala786Ser

                        12.

                        rs1473552296 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:51474368 (GRCh38)
                          12:51868152 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:51474367:C:T
                          Gene:
                          SLC4A8 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.51474368C>T, NC_000012.11:g.51868152C>T, NG_032675.2:g.87922C>T, NM_001039960.3:c.1931C>T, NM_001039960.2:c.1931C>T, NM_001258401.3:c.1772C>T, NM_001258401.2:c.1772C>T, NM_001258403.2:c.1772C>T, NM_001258403.1:c.1772C>T, NM_001258402.2:c.1931C>T, NM_001258402.1:c.1931C>T, NM_001267615.2:c.1772C>T, NM_001267615.1:c.1772C>T, NM_001405270.1:c.1895C>T, NM_001405268.1:c.1931C>T, NM_001405266.1:c.1772C>T, XM_011539014.4:c.464C>T, XM_011539014.3:c.464C>T, XM_011539014.2:c.464C>T, XM_011539014.1:c.464C>T, XM_011539010.2:c.1931C>T, XM_011539010.1:c.1931C>T, XM_011539011.2:c.1772C>T, XM_011539011.1:c.1772C>T, NM_004858.2:c.1931C>T, XM_006719700.2:c.1931C>T, XM_006719700.1:c.1931C>T, XM_047429910.1:c.1895C>T, NM_004858.1:c.1931C>T, XM_047429911.1:c.1931C>T, XM_047429912.1:c.1772C>T, NP_001035049.1:p.Pro644Leu, NP_001245330.1:p.Pro591Leu, NP_001245332.1:p.Pro591Leu, NP_001245331.1:p.Pro644Leu, NP_001254544.1:p.Pro591Leu, XP_011537316.1:p.Pro155Leu, XP_011537312.1:p.Pro644Leu, XP_011537313.1:p.Pro591Leu, XP_006719763.1:p.Pro644Leu, XP_047285866.1:p.Pro632Leu, XP_047285867.1:p.Pro644Leu, XP_047285868.1:p.Pro591Leu

                          13.

                          rs1473058942 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            12:51450942 (GRCh38)
                            12:51844726 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:51450941:C:A,NC_000012.12:51450941:C:T
                            Gene:
                            SLC4A8 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.51450942C>A, NC_000012.12:g.51450942C>T, NC_000012.11:g.51844726C>A, NC_000012.11:g.51844726C>T, NG_032675.2:g.64496C>A, NG_032675.2:g.64496C>T, NM_001039960.3:c.197C>A, NM_001039960.3:c.197C>T, NM_001039960.2:c.197C>A, NM_001039960.2:c.197C>T, NM_001258401.3:c.38C>A, NM_001258401.3:c.38C>T, NM_001258401.2:c.38C>A, NM_001258401.2:c.38C>T, NM_001258403.2:c.38C>A, NM_001258403.2:c.38C>T, NM_001258403.1:c.38C>A, NM_001258403.1:c.38C>T, NM_001258402.2:c.197C>A, NM_001258402.2:c.197C>T, NM_001258402.1:c.197C>A, NM_001258402.1:c.197C>T, NM_001267615.2:c.38C>A, NM_001267615.2:c.38C>T, NM_001267615.1:c.38C>A, NM_001267615.1:c.38C>T, NM_001405270.1:c.161C>A, NM_001405270.1:c.161C>T, NM_001405268.1:c.197C>A, NM_001405268.1:c.197C>T, NM_001405266.1:c.38C>A, NM_001405266.1:c.38C>T, XM_011539010.2:c.197C>A, XM_011539010.2:c.197C>T, XM_011539010.1:c.197C>A, XM_011539010.1:c.197C>T, XM_011539011.2:c.38C>A, XM_011539011.2:c.38C>T, XM_011539011.1:c.38C>A, XM_011539011.1:c.38C>T, NM_004858.2:c.197C>A, NM_004858.2:c.197C>T, XM_006719700.2:c.197C>A, XM_006719700.2:c.197C>T, XM_006719700.1:c.197C>A, XM_006719700.1:c.197C>T, XM_047429910.1:c.161C>A, XM_047429910.1:c.161C>T, NM_004858.1:c.197C>A, NM_004858.1:c.197C>T, XM_047429911.1:c.197C>A, XM_047429911.1:c.197C>T, XM_047429912.1:c.38C>A, XM_047429912.1:c.38C>T, NP_001035049.1:p.Thr66Asn, NP_001035049.1:p.Thr66Ile, NP_001245330.1:p.Thr13Asn, NP_001245330.1:p.Thr13Ile, NP_001245332.1:p.Thr13Asn, NP_001245332.1:p.Thr13Ile, NP_001245331.1:p.Thr66Asn, NP_001245331.1:p.Thr66Ile, NP_001254544.1:p.Thr13Asn, NP_001254544.1:p.Thr13Ile, XP_011537312.1:p.Thr66Asn, XP_011537312.1:p.Thr66Ile, XP_011537313.1:p.Thr13Asn, XP_011537313.1:p.Thr13Ile, XP_006719763.1:p.Thr66Asn, XP_006719763.1:p.Thr66Ile, XP_047285866.1:p.Thr54Asn, XP_047285866.1:p.Thr54Ile, XP_047285867.1:p.Thr66Asn, XP_047285867.1:p.Thr66Ile, XP_047285868.1:p.Thr13Asn, XP_047285868.1:p.Thr13Ile

                            14.

                            rs1472724842 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:51504111 (GRCh38)
                              12:51897895 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:51504110:T:C
                              Gene:
                              SLC4A8 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              HGVS:

                              15.

                              rs1472545912 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                12:51462405 (GRCh38)
                                12:51856189 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:51462404:A:G
                                Gene:
                                SLC4A8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000094/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:

                                16.

                                rs1472414060 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  12:51485794 (GRCh38)
                                  12:51879578 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:51485793:C:G
                                  Gene:
                                  SLC4A8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1471772624 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:51474405 (GRCh38)
                                    12:51868189 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:51474404:C:T
                                    Gene:
                                    SLC4A8 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1471255966 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      12:51488779 (GRCh38)
                                      12:51882563 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:51488778:A:T
                                      Gene:
                                      SLC4A8 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_downstream_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:

                                      19.

                                      rs1471062755 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:51457478 (GRCh38)
                                        12:51851262 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:51457477:T:C
                                        Gene:
                                        SLC4A8 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1470948146 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          12:51453681 (GRCh38)
                                          12:51847465 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:51453680:A:G
                                          Gene:
                                          SLC4A8 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.51453681A>G, NC_000012.11:g.51847465A>G, NG_032675.2:g.67235A>G, NM_001039960.3:c.556A>G, NM_001039960.2:c.556A>G, NM_001258401.3:c.397A>G, NM_001258401.2:c.397A>G, NM_001258403.2:c.397A>G, NM_001258403.1:c.397A>G, NM_001258402.2:c.556A>G, NM_001258402.1:c.556A>G, NM_001267615.2:c.397A>G, NM_001267615.1:c.397A>G, NM_001405270.1:c.520A>G, NM_001405268.1:c.556A>G, NM_001405266.1:c.397A>G, XM_011539010.2:c.556A>G, XM_011539010.1:c.556A>G, XM_011539011.2:c.397A>G, XM_011539011.1:c.397A>G, NM_004858.2:c.556A>G, XM_006719700.2:c.556A>G, XM_006719700.1:c.556A>G, XM_047429910.1:c.520A>G, NM_004858.1:c.556A>G, XM_047429911.1:c.556A>G, XM_047429912.1:c.397A>G, NP_001035049.1:p.Ser186Gly, NP_001245330.1:p.Ser133Gly, NP_001245332.1:p.Ser133Gly, NP_001245331.1:p.Ser186Gly, NP_001254544.1:p.Ser133Gly, XP_011537312.1:p.Ser186Gly, XP_011537313.1:p.Ser133Gly, XP_006719763.1:p.Ser186Gly, XP_047285866.1:p.Ser174Gly, XP_047285867.1:p.Ser186Gly, XP_047285868.1:p.Ser133Gly

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